Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987060T>G , CM000669.2:g.5987060T>G	GRCh38
NC_000007.13:g.6026691T>G , CM000669.1:g.6026691T>G	GRCh37
NC_000007.12:g.5993217T>G	NCBI36
NG_008466.1:g.27047A>C , LRG_161:g.27047A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1101A>C	ENSP00000514615.2:n.*1101A>C
ENST00000699840.2:c.1702A>C	ENSP00000514638.2:p.Thr568Pro
ENST00000699930.2:c.1597A>C	ENSP00000514695.2:p.Thr533Pro
ENST00000406569.8:c.1678+27A>C	ENSP00000514464.1:n.1678+27A>C
ENST00000644110.2:c.*1299A>C	ENSP00000496392.2:n.*1299A>C
ENST00000699752.1:c.1549A>C	ENSP00000514561.1:p.Thr517Pro
ENST00000699753.1:c.*1126A>C	ENSP00000514562.1:n.*1126A>C
ENST00000699754.1:c.1507A>C	ENSP00000514563.1:p.Thr503Pro
ENST00000699755.1:c.*1104A>C	ENSP00000514564.1:n.*1104A>C
ENST00000699756.1:c.*1292A>C	ENSP00000514565.1:n.*1292A>C
ENST00000699757.1:c.*962A>C	ENSP00000514566.1:n.*962A>C
ENST00000699758.1:c.*962A>C	ENSP00000514567.1:n.*962A>C
ENST00000699759.1:n.2559A>C
ENST00000699760.1:c.1387A>C	ENSP00000514568.1:p.Thr463Pro
ENST00000699761.1:c.1300A>C	ENSP00000514569.1:p.Thr434Pro
ENST00000699762.1:c.1132A>C	ENSP00000514570.1:p.Thr378Pro
ENST00000699763.1:c.*795A>C	ENSP00000514571.1:n.*795A>C
ENST00000699764.1:c.*23A>C	ENSP00000514572.1:n.*23A>C
ENST00000699765.1:c.*801A>C	ENSP00000514573.1:n.*801A>C
ENST00000699766.1:c.1705A>C	ENSP00000514574.1:p.Thr569Pro
ENST00000699767.1:c.1705A>C	ENSP00000514575.1:p.Thr569Pro
ENST00000699768.1:c.1705A>C	ENSP00000514576.1:p.Thr569Pro
ENST00000699811.1:c.1300A>C	ENSP00000514614.1:p.Thr434Pro
ENST00000699813.1:n.1818A>C
ENST00000699814.1:c.1328A>C
ENST00000699815.1:c.*1236A>C	ENSP00000514616.1:n.*1236A>C
ENST00000699816.1:c.*595A>C	ENSP00000514617.1:n.*595A>C
ENST00000699817.1:c.*1299A>C	ENSP00000514618.1:n.*1299A>C
ENST00000699818.1:c.1300A>C	ENSP00000514619.1:p.Thr434Pro
ENST00000699819.1:c.*862A>C	ENSP00000514620.1:n.*862A>C
ENST00000699820.1:c.1144+2740A>C	ENSP00000514621.1:n.1144+2740A>C
ENST00000699821.1:c.1300A>C	ENSP00000514622.1:p.Thr434Pro
ENST00000699822.1:c.*1157A>C	ENSP00000514623.1:n.*1157A>C
ENST00000699823.1:c.1300A>C	ENSP00000514624.1:p.Thr434Pro
ENST00000699824.1:c.*1208A>C	ENSP00000514625.1:n.*1208A>C
ENST00000699825.1:c.1144A>C	ENSP00000514626.1:p.Thr382Pro
ENST00000699826.1:c.*1104A>C	ENSP00000514627.1:n.*1104A>C
ENST00000699827.1:c.1537A>C	ENSP00000514628.1:p.Thr513Pro
ENST00000699828.1:c.*795A>C	ENSP00000514629.1:n.*795A>C
ENST00000699833.1:n.3477A>C
ENST00000699837.1:c.1300A>C	ENSP00000514635.1:p.Thr434Pro
ENST00000699838.1:c.*1605A>C	ENSP00000514636.1:n.*1605A>C
ENST00000699839.1:c.1891A>C	ENSP00000514637.1:p.Thr631Pro
ENST00000699916.1:c.*962A>C	ENSP00000514684.1:n.*962A>C
ENST00000699917.1:c.*1154A>C	ENSP00000514685.1:n.*1154A>C
ENST00000699918.1:c.*1206A>C	ENSP00000514686.1:n.*1206A>C
ENST00000699919.1:c.*1292A>C	ENSP00000514687.1:n.*1292A>C
ENST00000699920.1:c.*1341A>C	ENSP00000514688.1:n.*1341A>C
ENST00000699928.1:c.989-4069A>C	ENSP00000514693.1:n.989-4069A>C
ENST00000699929.1:c.*1006A>C	ENSP00000514694.1:n.*1006A>C
ENST00000699930.1:c.1597A>C	ENSP00000514695.1:p.Thr533Pro
ENST00000699931.1:n.3133A>C
ENST00000699951.1:c.*801A>C	ENSP00000514706.1:n.*801A>C
ENST00000699952.1:c.803+10266A>C	ENSP00000514707.1:n.803+10266A>C
ENST00000699953.1:c.*812A>C	ENSP00000514708.1:n.*812A>C
ENST00000699954.1:c.*1006A>C	ENSP00000514709.1:n.*1006A>C
ENST00000265849.12:c.1705A>C MANE Select	ENSP00000265849.7:p.Thr569Pro
ENST00000642292.1:c.1300A>C	ENSP00000495524.1:p.Thr434Pro
ENST00000642456.1:c.1300A>C	ENSP00000493814.1:p.Thr434Pro
ENST00000643595.1:c.*1104A>C	ENSP00000494497.1:n.*1104A>C
ENST00000644110.1:c.1387A>C	ENSP00000496392.1:p.Thr463Pro
ENST00000265849.11:c.1705A>C	ENSP00000265849.7:p.Thr569Pro
ENST00000382321.5:c.804-4069A>C	ENSP00000371758.4:n.804-4069A>C
ENST00000406569.7:n.1678+27A>C
ENST00000441476.6:c.1387A>C	ENSP00000392843.2:p.Thr463Pro
ENST00000469652.1:n.63-4155A>C
NM_000535.5:c.1705A>C , LRG_161t1:c.1705A>C	NP_000526.1:p.Thr569Pro
NR_003085.2:n.1787A>C
XM_006715742.2:c.1699A>C	XP_006715805.1:p.Thr567Pro
XM_006715744.2:c.772A>C	XP_006715807.1:p.Thr258Pro
XM_011515427.1:c.1750A>C	XP_011513729.1:p.Thr584Pro
XM_011515428.1:c.1594A>C	XP_011513730.1:p.Thr532Pro
XM_011515429.1:c.1387A>C	XP_011513731.1:p.Thr463Pro
XM_011515430.1:c.1387A>C	XP_011513732.1:p.Thr463Pro
NM_000535.6:c.1705A>C	NP_000526.2:p.Thr569Pro
NM_001322003.1:c.1300A>C	NP_001308932.1:p.Thr434Pro
NM_001322004.1:c.1300A>C	NP_001308933.1:p.Thr434Pro
NM_001322005.1:c.1300A>C	NP_001308934.1:p.Thr434Pro
NM_001322006.1:c.1549A>C	NP_001308935.1:p.Thr517Pro
NM_001322007.1:c.1387A>C	NP_001308936.1:p.Thr463Pro
NM_001322008.1:c.1387A>C	NP_001308937.1:p.Thr463Pro
NM_001322009.1:c.1300A>C	NP_001308938.1:p.Thr434Pro
NM_001322010.1:c.1144A>C	NP_001308939.1:p.Thr382Pro
NM_001322011.1:c.772A>C	NP_001308940.1:p.Thr258Pro
NM_001322012.1:c.772A>C	NP_001308941.1:p.Thr258Pro
NM_001322013.1:c.1132A>C	NP_001308942.1:p.Thr378Pro
NM_001322014.1:c.1705A>C	NP_001308943.1:p.Thr569Pro
NM_001322015.1:c.1396A>C	NP_001308944.1:p.Thr466Pro
NR_136154.1:n.1792A>C
XM_006715744.4:c.772A>C	XP_006715807.1:p.Thr258Pro
XM_017012342.2:c.772A>C	XP_016867831.1:p.Thr258Pro
XM_024446800.1:c.1144A>C	XP_024302568.1:p.Thr382Pro
NM_000535.7:c.1705A>C MANE Select	NP_000526.2:p.Thr569Pro
NM_001322003.2:c.1300A>C	NP_001308932.1:p.Thr434Pro
NM_001322004.2:c.1300A>C	NP_001308933.1:p.Thr434Pro
NM_001322005.2:c.1300A>C	NP_001308934.1:p.Thr434Pro
NM_001322006.2:c.1549A>C	NP_001308935.1:p.Thr517Pro
NM_001322008.2:c.1387A>C	NP_001308937.1:p.Thr463Pro
NM_001322009.2:c.1300A>C	NP_001308938.1:p.Thr434Pro
NM_001322010.2:c.1144A>C	NP_001308939.1:p.Thr382Pro
NM_001322011.2:c.772A>C	NP_001308940.1:p.Thr258Pro
NM_001322012.2:c.772A>C	NP_001308941.1:p.Thr258Pro
NM_001322013.2:c.1132A>C	NP_001308942.1:p.Thr378Pro
NM_001322014.2:c.1705A>C	NP_001308943.1:p.Thr569Pro
NM_001322015.2:c.1396A>C	NP_001308944.1:p.Thr466Pro
NM_001322007.2:c.1387A>C	NP_001308936.1:p.Thr463Pro

Linked Data

Genomic Alleles

Transcript Alleles