Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986841C>T , CM000669.2:g.5986841C>T	GRCh38
NC_000007.13:g.6026472C>T , CM000669.1:g.6026472C>T	GRCh37
NC_000007.12:g.5992998C>T	NCBI36
NG_008466.1:g.27266G>A , LRG_161:g.27266G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*1320G>A	ENSP00000514615.2:n.*1320G>A
ENST00000699840.2:c.1921G>A	ENSP00000514638.2:p.Glu641Lys
ENST00000699930.2:c.1816G>A	ENSP00000514695.2:p.Glu606Lys
ENST00000406569.8:c.1678+246G>A	ENSP00000514464.1:n.1678+246G>A
ENST00000644110.2:c.*1518G>A	ENSP00000496392.2:n.*1518G>A
ENST00000699752.1:c.1768G>A	ENSP00000514561.1:p.Glu590Lys
ENST00000699753.1:c.*1345G>A	ENSP00000514562.1:n.*1345G>A
ENST00000699754.1:c.1726G>A	ENSP00000514563.1:p.Glu576Lys
ENST00000699755.1:c.*1323G>A	ENSP00000514564.1:n.*1323G>A
ENST00000699756.1:c.*1511G>A	ENSP00000514565.1:n.*1511G>A
ENST00000699757.1:c.*1181G>A	ENSP00000514566.1:n.*1181G>A
ENST00000699758.1:c.*1181G>A	ENSP00000514567.1:n.*1181G>A
ENST00000699759.1:n.2778G>A
ENST00000699760.1:c.1606G>A	ENSP00000514568.1:p.Glu536Lys
ENST00000699761.1:c.1519G>A	ENSP00000514569.1:p.Glu507Lys
ENST00000699762.1:c.1351G>A	ENSP00000514570.1:p.Glu451Lys
ENST00000699763.1:c.*1014G>A	ENSP00000514571.1:n.*1014G>A
ENST00000699764.1:c.*242G>A	ENSP00000514572.1:n.*242G>A
ENST00000699765.1:c.*1020G>A	ENSP00000514573.1:n.*1020G>A
ENST00000699766.1:c.1924G>A	ENSP00000514574.1:p.Glu642Lys
ENST00000699767.1:c.1924G>A	ENSP00000514575.1:p.Glu642Lys
ENST00000699768.1:c.1924G>A	ENSP00000514576.1:p.Glu642Lys
ENST00000699811.1:c.1519G>A	ENSP00000514614.1:p.Glu507Lys
ENST00000699813.1:n.2037G>A
ENST00000699814.1:c.1547G>A
ENST00000699815.1:c.*1455G>A	ENSP00000514616.1:n.*1455G>A
ENST00000699816.1:c.*814G>A	ENSP00000514617.1:n.*814G>A
ENST00000699817.1:c.*1518G>A	ENSP00000514618.1:n.*1518G>A
ENST00000699818.1:c.1519G>A	ENSP00000514619.1:p.Glu507Lys
ENST00000699819.1:c.*1081G>A	ENSP00000514620.1:n.*1081G>A
ENST00000699820.1:c.1144+2959G>A	ENSP00000514621.1:n.1144+2959G>A
ENST00000699821.1:c.1519G>A	ENSP00000514622.1:p.Glu507Lys
ENST00000699822.1:c.*1376G>A	ENSP00000514623.1:n.*1376G>A
ENST00000699823.1:c.1519G>A	ENSP00000514624.1:p.Glu507Lys
ENST00000699824.1:c.*1427G>A	ENSP00000514625.1:n.*1427G>A
ENST00000699825.1:c.1363G>A	ENSP00000514626.1:p.Glu455Lys
ENST00000699826.1:c.*1323G>A	ENSP00000514627.1:n.*1323G>A
ENST00000699827.1:c.1756G>A	ENSP00000514628.1:p.Glu586Lys
ENST00000699828.1:c.*1014G>A	ENSP00000514629.1:n.*1014G>A
ENST00000699833.1:n.3696G>A
ENST00000699837.1:c.1519G>A	ENSP00000514635.1:p.Glu507Lys
ENST00000699838.1:c.*1824G>A	ENSP00000514636.1:n.*1824G>A
ENST00000699839.1:c.2110G>A	ENSP00000514637.1:p.Glu704Lys
ENST00000699916.1:c.*1181G>A	ENSP00000514684.1:n.*1181G>A
ENST00000699917.1:c.*1373G>A	ENSP00000514685.1:n.*1373G>A
ENST00000699918.1:c.*1425G>A	ENSP00000514686.1:n.*1425G>A
ENST00000699919.1:c.*1511G>A	ENSP00000514687.1:n.*1511G>A
ENST00000699920.1:c.*1560G>A	ENSP00000514688.1:n.*1560G>A
ENST00000699928.1:c.989-3850G>A	ENSP00000514693.1:n.989-3850G>A
ENST00000699951.1:c.*1020G>A	ENSP00000514706.1:n.*1020G>A
ENST00000699952.1:c.803+10485G>A	ENSP00000514707.1:n.803+10485G>A
ENST00000265849.12:c.1924G>A MANE Select	ENSP00000265849.7:p.Glu642Lys
ENST00000642292.1:c.1519G>A	ENSP00000495524.1:p.Glu507Lys
ENST00000642456.1:c.1519G>A	ENSP00000493814.1:p.Glu507Lys
ENST00000643595.1:c.*1323G>A	ENSP00000494497.1:n.*1323G>A
ENST00000644110.1:c.1606G>A	ENSP00000496392.1:p.Glu536Lys
ENST00000265849.11:c.1924G>A	ENSP00000265849.7:p.Glu642Lys
ENST00000382321.5:c.804-3850G>A	ENSP00000371758.4:n.804-3850G>A
ENST00000406569.7:n.1678+246G>A
ENST00000441476.6:c.1606G>A	ENSP00000392843.2:p.Glu536Lys
ENST00000469652.1:n.63-3936G>A
NM_000535.5:c.1924G>A , LRG_161t1:c.1924G>A	NP_000526.1:p.Glu642Lys
NR_003085.2:n.2006G>A
XM_006715742.2:c.1918G>A	XP_006715805.1:p.Glu640Lys
XM_006715744.2:c.991G>A	XP_006715807.1:p.Glu331Lys
XM_011515427.1:c.1969G>A	XP_011513729.1:p.Glu657Lys
XM_011515428.1:c.1813G>A	XP_011513730.1:p.Glu605Lys
XM_011515429.1:c.1606G>A	XP_011513731.1:p.Glu536Lys
XM_011515430.1:c.1606G>A	XP_011513732.1:p.Glu536Lys
NM_000535.6:c.1924G>A	NP_000526.2:p.Glu642Lys
NM_001322003.1:c.1519G>A	NP_001308932.1:p.Glu507Lys
NM_001322004.1:c.1519G>A	NP_001308933.1:p.Glu507Lys
NM_001322005.1:c.1519G>A	NP_001308934.1:p.Glu507Lys
NM_001322006.1:c.1768G>A	NP_001308935.1:p.Glu590Lys
NM_001322007.1:c.1606G>A	NP_001308936.1:p.Glu536Lys
NM_001322008.1:c.1606G>A	NP_001308937.1:p.Glu536Lys
NM_001322009.1:c.1519G>A	NP_001308938.1:p.Glu507Lys
NM_001322010.1:c.1363G>A	NP_001308939.1:p.Glu455Lys
NM_001322011.1:c.991G>A	NP_001308940.1:p.Glu331Lys
NM_001322012.1:c.991G>A	NP_001308941.1:p.Glu331Lys
NM_001322013.1:c.1351G>A	NP_001308942.1:p.Glu451Lys
NM_001322014.1:c.1924G>A	NP_001308943.1:p.Glu642Lys
NM_001322015.1:c.1615G>A	NP_001308944.1:p.Glu539Lys
NR_136154.1:n.2011G>A
XM_006715744.4:c.991G>A	XP_006715807.1:p.Glu331Lys
XM_017012342.2:c.991G>A	XP_016867831.1:p.Glu331Lys
XM_024446800.1:c.1363G>A	XP_024302568.1:p.Glu455Lys
NM_000535.7:c.1924G>A MANE Select	NP_000526.2:p.Glu642Lys
NM_001322003.2:c.1519G>A	NP_001308932.1:p.Glu507Lys
NM_001322004.2:c.1519G>A	NP_001308933.1:p.Glu507Lys
NM_001322005.2:c.1519G>A	NP_001308934.1:p.Glu507Lys
NM_001322006.2:c.1768G>A	NP_001308935.1:p.Glu590Lys
NM_001322008.2:c.1606G>A	NP_001308937.1:p.Glu536Lys
NM_001322009.2:c.1519G>A	NP_001308938.1:p.Glu507Lys
NM_001322010.2:c.1363G>A	NP_001308939.1:p.Glu455Lys
NM_001322011.2:c.991G>A	NP_001308940.1:p.Glu331Lys
NM_001322012.2:c.991G>A	NP_001308941.1:p.Glu331Lys
NM_001322013.2:c.1351G>A	NP_001308942.1:p.Glu451Lys
NM_001322014.2:c.1924G>A	NP_001308943.1:p.Glu642Lys
NM_001322015.2:c.1615G>A	NP_001308944.1:p.Glu539Lys
NM_001322007.2:c.1606G>A	NP_001308936.1:p.Glu536Lys

Linked Data

Genomic Alleles

Transcript Alleles