Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.[29942563A>C;29942594C>T;29942780T>A;29942781T>C;29942863C>T;29942902G>A;29942940A>T;29942942G>C;29942982T>C;29942984G>A;29943287A>G;29943300G>C;29943372C>T;29943426A>C;29943448A>G;29943451A>T;29943479T>G;29944124C>G;29944135A>G;29944144C>T;29944151C>G;29944153C>T;29944154A>G;29944193G>A;29944264C>T;29944310G>T;29944331G>C;29944503T>C;29944549G>A;29944556C>T;29944568A>T;29944571A>G;29944591C>T;29944596T>G;29945075T>C;29945079A>T;29945260G>A;29945265C>T] , CM000668.2:g.[29942563A>C;29942594C>T;29942780T>A;29942781T>C;29942863C>T;29942902G>A;29942940A>T;29942942G>C;29942982T>C;29942984G>A;29943287A>G;29943300G>C;29943372C>T;29943426A>C;29943448A>G;29943451A>T;29943479T>G;29944124C>G;29944135A>G;29944144C>T;29944151C>G;29944153C>T;29944154A>G;29944193G>A;29944264C>T;29944310G>T;29944331G>C;29944503T>C;29944549G>A;29944556C>T;29944568A>T;29944571A>G;29944591C>T;29944596T>G;29945075T>C;29945079A>T;29945260G>A;29945265C>T]	GRCh38
NC_000006.11:g.[29910340A>C;29910371C>T;29910557T>A;29910558T>C;29910640C>T;29910679G>A;29910717A>T;29910719G>C;29910759T>C;29910761G>A;29911064A>G;29911077G>C;29911149C>T;29911203A>C;29911225A>G;29911228A>T;29911256T>G;29911901C>G;29911912A>G;29911921C>T;29911928C>G;29911930C>T;29911931A>G;29911970G>A;29912041C>T;29912087G>T;29912108G>C;29912280T>C;29912326G>A;29912333C>T;29912345A>T;29912348A>G;29912368C>T;29912373T>G;29912852T>C;29912856A>T;29913037G>A;29913042C>T] , CM000668.1:g.[29910340A>C;29910371C>T;29910557T>A;29910558T>C;29910640C>T;29910679G>A;29910717A>T;29910719G>C;29910759T>C;29910761G>A;29911064A>G;29911077G>C;29911149C>T;29911203A>C;29911225A>G;29911228A>T;29911256T>G;29911901C>G;29911912A>G;29911921C>T;29911928C>G;29911930C>T;29911931A>G;29911970G>A;29912041C>T;29912087G>T;29912108G>C;29912280T>C;29912326G>A;29912333C>T;29912345A>T;29912348A>G;29912368C>T;29912373T>G;29912852T>C;29912856A>T;29913037G>A;29913042C>T]	GRCh37
NC_000006.10:g.[30018319A>C;30018350C>T;30018536T>A;30018537T>C;30018619C>T;30018658G>A;30018696A>T;30018698G>C;30018738T>C;30018740G>A;30019043A>G;30019056G>C;30019128C>T;30019182A>C;30019204A>G;30019207A>T;30019235T>G;30019880C>G;30019891A>G;30019900C>T;30019907C>G;30019909C>T;30019910A>G;30019949G>A;30020020C>T;30020066G>T;30020087G>C;30020259T>C;30020305G>A;30020312C>T;30020324A>T;30020327A>G;30020347C>T;30020352T>G;30020831T>C;30020835A>T;30021016G>A;30021021C>T]	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638375.2:c.[10A>C;41C>T;97T>A;98T>C;180C>T;219G>A;257A>T;259G>C;299T>C;301G>A;363A>G;376G>C;448C>T;502A>C;524A>G;527A>T;555T>G;622C>G;633A>G;642C>T;649C>G;651C>T;652A>G;691G>A;762C>T;808G>T;829G>C;895+106T>C;895+152G>A;895+159C>T;895+171A>T;895+174A>G;895+194C>T;895+199T>G;912T>C;916A>T;955G>A;960C>T]	ENSP00000492789.2:p.[Met4Leu;Ser14Leu;Phe33Ile;Phe33Ser;Phe60...
ENST00000706892.1:n.[286A>C;317C>T;373T>A;374T>C;456C>T;495G>A;533A>T;535G>C;575T>C;577G>A;639A>G;652G>C;724C>T;778A>C;800A>G;803A>T;831T>G;1476C>G;1487A>G;1496C>T;1503C>G;1505C>T;1506A>G;1545G>A;1616C>T;1662G>T;1683G>C;1855T>C;1901G>A;1908C>T;1920A>T;1923A>G;1943C>T;1948T>G;2427T>C;2431A>T;2612G>A;2617C>T]
ENST00000706893.1:c.[10A>C;41C>T;97T>A;98T>C;180C>T;219G>A;257A>T;259G>C;299T>C;301G>A;363A>G;376G>C;448C>T;502A>C;524A>G;527A>T;555T>G;622C>G;633A>G;642C>T;649C>G;651C>T;652A>G;691G>A;762C>T;808G>T;829G>C;933T>C;979G>A;986C>T;998A>T;1001A>G;1021C>T;1026T>G;13T>C;17A>T;56G>A;61C>T]	ENSP00000516609.1:[p.Met4Leu;p.Ser14Leu;p.Phe33Ile;p.Phe33Ser...
ENST00000706894.1:c.[10A>C;41C>T;97T>A;98T>C;180C>T;219G>A;257A>T;259G>C;299T>C;301G>A;363A>G;376G>C;448C>T;502A>C;524A>G;527A>T;555T>G;622C>G;633A>G;642C>T;649C>G;651C>T;652A>G;691G>A;762C>T;808G>T;829G>C;899T>C;945G>A;952C>T;964A>T;967A>G;987C>T;992T>G;1029T>C;1033A>T;1072G>A;1077C>T]	ENSP00000516610.1:p.[Met4Leu;Ser14Leu;Phe33Ile;Phe33Ser;Phe60...
ENST00000706895.1:n.[286A>C;317C>T;373T>A;374T>C;456C>T;495G>A;533A>T;535G>C;575T>C;577G>A;639A>G;652G>C;724C>T;778A>C;800A>G;803A>T;831T>G;898C>G;909A>G;918C>T;925C>G;927C>T;928A>G;967G>A;1038C>T;1084G>T;1105G>C;1277T>C;1323G>A;1330C>T;1342A>T;1345A>G;1365C>T;1370T>G;1849T>C;1853A>T;1892G>A;1897C>T]
ENST00000706896.1:n.[286A>C;317C>T;373T>A;374T>C;456C>T;495G>A;533A>T;535G>C;575T>C;577G>A;639A>G;652G>C;724C>T;778A>C;800A>G;803A>T;831T>G;1476C>G;1487A>G;1496C>T;1503C>G;1505C>T;1506A>G;1545G>A;1616C>T;1662G>T;1683G>C;1753T>C;1799G>A;1806C>T;1818A>T;1821A>G;1841C>T;1846T>G;2325T>C;2329A>T;2368G>A;2373C>T]
ENST00000706897.1:n.[286A>C;317C>T;373T>A;374T>C;456C>T;495G>A;533A>T;535G>C;575T>C;577G>A;639A>G;652G>C;724C>T;778A>C;800A>G;803A>T;831T>G;898C>G;909A>G;918C>T;925C>G;927C>T;928A>G;967G>A;1038C>T;1084G>T;1105G>C;1175T>C;1221G>A;1228C>T;1240A>T;1243A>G;1263C>T;1268T>G;1747T>C;1751A>T;1790G>A;1795C>T]
ENST00000706898.1:c.[10A>C;41C>T;97T>A;98T>C;180C>T;219G>A;257A>T;259G>C;299T>C;301G>A;363A>G;376G>C;448C>T;502A>C;524A>G;527A>T;555T>G;622C>G;633A>G;642C>T;649C>G;651C>T;652A>G;691G>A;762C>T;808G>T;829G>C;899T>C;945G>A;952C>T;964A>T;967A>G;987C>T;992T>G;1047T>C;1051A>T;1090G>A;1095C>T]	ENSP00000516611.1:p.[Met4Leu;Ser14Leu;Phe33Ile;Phe33Ser;Phe60...
ENST00000706899.1:n.[286A>C;317C>T;373T>A;374T>C;456C>T;495G>A;533A>T;535G>C;575T>C;577G>A;639A>G;652G>C;724C>T;778A>C;800A>G;803A>T;831T>G;1476C>G;1487A>G;1496C>T;1503C>G;1505C>T;1506A>G;1545G>A;1616C>T;1662G>T;1683G>C;1753T>C;1799G>A;1806C>T;1818A>T;1821A>G;1841C>T;1846T>G;1883T>C;1887A>T;1926G>A;1931C>T]
ENST00000706901.1:c.[10A>C;41C>T;97T>A;98T>C;180C>T;219G>A;257A>T;259G>C;299T>C;301G>A;363A>G;376G>C;448C>T;502A>C;524A>G;527A>T;555T>G;622C>G;633A>G;642C>T;649C>G;651C>T;652A>G;691G>A;762C>T;808G>T;829G>C;899T>C;945G>A;952C>T;964A>T;967A>G;987C>T;992T>G;1029T>C;1033A>T;1072G>A;1077C>T]	ENSP00000516612.1:p.[Met4Leu;Ser14Leu;Phe33Ile;Phe33Ser;Phe60...
ENST00000706902.1:c.[10A>C;41C>T;97T>A;98T>C;180C>T;219G>A;257A>T;259G>C;299T>C;301G>A;363A>G;376G>C;448C>T;502A>C;524A>G;527A>T;555T>G;622C>G;633A>G;642C>T;649C>G;651C>T;652A>G;691G>A;762C>T;808G>T;829G>C;899T>C;945G>A;952C>T;964A>T;967A>G;987C>T;992T>G;1029T>C;1033A>T;1072G>A;1077C>T]	ENSP00000516613.1:p.[Met4Leu;Ser14Leu;Phe33Ile;Phe33Ser;Phe60...
ENST00000706903.1:c.[10A>C;41C>T;97T>A;98T>C;180C>T;219G>A;257A>T;259G>C;299T>C;301G>A;363A>G;376G>C;448C>T;502A>C;524A>G;527A>T;555T>G;622C>G;633A>G;642C>T;649C>G;651C>T;652A>G;691G>A;762C>T;808G>T;829G>C;899T>C;945G>A;952C>T;964A>T;967A>G;987C>T;992T>G;1029T>C;1033A>T;1072G>A;1077C>T]	ENSP00000516614.1:p.[Met4Leu;Ser14Leu;Phe33Ile;Phe33Ser;Phe60...
ENST00000706904.1:c.[10A>C;41C>T;97T>A;98T>C;180C>T;219G>A;257A>T;259G>C;299T>C;301G>A;363A>G;376G>C;448C>T;502A>C;524A>G;527A>T;555T>G;622C>G;633A>G;642C>T;649C>G;651C>T;652A>G;691G>A;762C>T;808G>T;829G>C;899T>C;945G>A;952C>T;964A>T;967A>G;987C>T;992T>G;1029T>C;1033A>T;1072G>A;1077C>T]	ENSP00000516615.1:p.[Met4Leu;Ser14Leu;Phe33Ile;Phe33Ser;Phe60...
ENST00000706905.1:c.[10A>C;41C>T;97T>A;98T>C;180C>T;219G>A;257A>T;259G>C;299T>C;301G>A;363A>G;376G>C;448C>T;502A>C;524A>G;527A>T;555T>G;622C>G;633A>G;642C>T;649C>G;651C>T;652A>G;691G>A;762C>T;808G>T;829G>C;899T>C;945G>A;952C>T;964A>T;967A>G;987C>T;992T>G;1029T>C;1033A>T;1072G>A;1077C>T]	ENSP00000516616.1:p.[Met4Leu;Ser14Leu;Phe33Thr;Phe60=;Ala73=;...
ENST00000376809.10:c.[10A>C;41C>T;97T>A;98T>C;180C>T;219G>A;257A>T;259G>C;299T>C;301G>A;363A>G;376G>C;448C>T;502A>C;524A>G;527A>T;555T>G;622C>G;633A>G;642C>T;649C>G;651C>T;652A>G;691G>A;762C>T;808G>T;829G>C;899T>C;945G>A;952C>T;964A>T;967A>G;987C>T;992T>G;1029T>C;1033A>T;1072G>A;1077C>T] MANE Select	ENSP00000366005.5:p.[Met4Leu;Ser14Leu;Phe33Thr;Phe60=;Ala73=;...
ENST00000638375.1:c.[10A>C;41C>T;97T>A;98T>C;180C>T;219G>A;257A>T;259G>C;299T>C;301G>A;363A>G;376G>C;448C>T;502A>C;524A>G;527A>T;555T>G;622C>G;633A>G;642C>T;649C>G;651C>T;652A>G;691G>A;762C>T;808G>T;829G>C;895+106T>C;895+152G>A;895+159C>T;895+171A>T;895+174A>G;895+194C>T;895+199T>G;912T>C;916A>T;955G>A;960C>T]	ENSP00000492789.1:p.[Met4Leu;Ser14Leu;Phe33Ile;Phe33Ser;Phe60...
ENST00000376802.2:c.[10A>C;41C>T;97T>A;98T>C;180C>T;219G>A;257A>T;259G>C;299T>C;301G>A;363A>G;376G>C;448C>T;502A>C;524A>G;527A>T;555T>G;622C>G;633A>G;642C>T;649C>G;651C>T;652A>G;691G>A;762C>T;808G>T;829G>C;895+106T>C;895+152G>A;895+159C>T;895+171A>T;895+174A>G;895+194C>T;895+199T>G;896-376T>C;896-372A>T;896-191G>A;896-186C>T]	ENSP00000365998.2:p.[Met4Leu;Ser14Leu;Phe33Thr;Phe60=;Ala73=;...
ENST00000376806.9:c.[10A>C;41C>T;97T>A;98T>C;180C>T;219G>A;257A>T;259G>C;299T>C;301G>A;363A>G;376G>C;448C>T;502A>C;524A>G;527A>T;555T>G;622C>G;633A>G;642C>T;649C>G;651C>T;652A>G;691G>A;762C>T;808G>T;829G>C;899T>C;945G>A;952C>T;964A>T;967A>G;987C>T;992T>G;1047T>C;1051A>T;1090G>A;1095C>T]	ENSP00000366002.5:p.[Met4Leu;Ser14Leu;Phe33Ile;Phe33Ser;Phe60...
ENST00000376809.9:c.[10A>C;41C>T;97T>A;98T>C;180C>T;219G>A;257A>T;259G>C;299T>C;301G>A;363A>G;376G>C;448C>T;502A>C;524A>G;527A>T;555T>G;622C>G;633A>G;642C>T;649C>G;651C>T;652A>G;691G>A;762C>T;808G>T;829G>C;899T>C;945G>A;952C>T;964A>T;967A>G;987C>T;992T>G;1029T>C;1033A>T;1072G>A;1077C>T]	ENSP00000366005.5:p.[Met4Leu;Ser14Leu;Phe33Ile;Phe33Ser;Phe60...
ENST00000396634.5:c.[10A>C;41C>T;97T>A;98T>C;180C>T;219G>A;257A>T;259G>C;299T>C;301G>A;363A>G;376G>C;448C>T;502A>C;524A>G;527A>T;555T>G;622C>G;633A>G;642C>T;649C>G;651C>T;652A>G;691G>A;762C>T;808G>T;829G>C;899T>C;945G>A;952C>T;964A>T;967A>G;987C>T;992T>G;1029T>C;1033A>T;1072G>A;1077C>T]	ENSP00000379873.1:p.[Met4Leu;Ser14Leu;Phe33Thr;Phe60=;Ala73=;...
ENST00000461903.1:n.[10A>C;41C>T;97T>A;98T>C;180C>T;219G>A;257A>T;259G>C;299T>C;301G>A;604A>G;617G>C;689C>T;743A>C;765A>G;768A>T;796T>G;863C>G;874A>G;883C>T;890C>G;892C>T;893A>G;932G>A;1003C>T;1049G>T;1070G>C;1140T>C;1186G>A;1193C>T;1205A>T;1208A>G;1228C>T;1233T>G;1288T>C;1292A>T;1331G>A;1336C>T]
ENST00000479320.5:n.[10A>C;41C>T;97T>A;98T>C;180C>T;219G>A;257A>T;259G>C;299T>C;301G>A;604A>G;617G>C;689C>T;743A>C;765A>G;768A>T;796T>G;863C>G;874A>G;883C>T;890C>G;892C>T;893A>G;932G>A;1003C>T;1049G>T;1070G>C;1140T>C;1186G>A;1193C>T;1205A>T;1208A>G;1228C>T;1233T>G;1270T>C;1274A>T;1313G>A;1318C>T]
ENST00000495183.5:n.[12A>C;43C>T;99T>A;100T>C;182C>T;221G>A;259A>T;261G>C;301T>C;303G>A;606A>G;619G>C;691C>T;745A>C;767A>G;770A>T;798T>G;865C>G;876A>G;885C>T;892C>G;894C>T;895A>G;934G>A;1005C>T;1051G>T;1072G>C;1142T>C;1188G>A;1195C>T;1207A>T;1210A>G;1230C>T;1235T>G;1268T>C;1272A>T;1311G>A;1316C>T]
ENST00000496081.5:n.[16A>C;47C>T;103T>A;104T>C;177+9C>T;177+48G>A;177+86A>T;177+88G>C;177+128T>C;177+130G>A;180A>G;193G>C;265C>T;319A>C;341A>G;344A>T;372T>G;439C>G;450A>G;459C>T;466C>G;468C>T;469A>G;508G>A;579C>T;625G>T;646G>C;716T>C;762G>A;769C>T;781A>T;784A>G;804C>T;809T>G;1288T>C;1292A>T;1331G>A;1336C>T]
NM_002116.7:c.[10A>C;41C>T;97T>A;98T>C;180C>T;219G>A;257A>T;259G>C;299T>C;301G>A;363A>G;376G>C;448C>T;502A>C;524A>G;527A>T;555T>G;622C>G;633A>G;642C>T;649C>G;651C>T;652A>G;691G>A;762C>T;808G>T;829G>C;899T>C;945G>A;952C>T;964A>T;967A>G;987C>T;992T>G;1029T>C;1033A>T;1072G>A;1077C>T]	NP_002107.3:p.[Met4Leu;Ser14Leu;Phe33Ile;Phe33Ser;Phe60=;Ala7...
NM_002116.8:c.[10A>C;41C>T;97T>A;98T>C;180C>T;219G>A;257A>T;259G>C;299T>C;301G>A;363A>G;376G>C;448C>T;502A>C;524A>G;527A>T;555T>G;622C>G;633A>G;642C>T;649C>G;651C>T;652A>G;691G>A;762C>T;808G>T;829G>C;899T>C;945G>A;952C>T;964A>T;967A>G;987C>T;992T>G;1029T>C;1033A>T;1072G>A;1077C>T] MANE Select	NP_002107.3:p.[Met4Leu;Ser14Leu;Phe33Thr;Phe60=;Ala73=;Gln86L...