Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986775G>T , CM000669.2:g.5986775G>T	GRCh38
NC_000007.13:g.6026406G>T , CM000669.1:g.6026406G>T	GRCh37
NC_000007.12:g.5992932G>T	NCBI36
NG_008466.1:g.27332C>A , LRG_161:g.27332C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1386C>A	ENSP00000514615.2:n.*1386C>A
ENST00000699840.2:c.1987C>A	ENSP00000514638.2:p.Leu663Ile
ENST00000699930.2:c.1882C>A	ENSP00000514695.2:p.Leu628Ile
ENST00000406569.8:c.1678+312C>A	ENSP00000514464.1:n.1678+312C>A
ENST00000644110.2:c.*1584C>A	ENSP00000496392.2:n.*1584C>A
ENST00000699752.1:c.1834C>A	ENSP00000514561.1:p.Leu612Ile
ENST00000699753.1:c.*1411C>A	ENSP00000514562.1:n.*1411C>A
ENST00000699754.1:c.1792C>A	ENSP00000514563.1:p.Leu598Ile
ENST00000699755.1:c.*1389C>A	ENSP00000514564.1:n.*1389C>A
ENST00000699756.1:c.*1577C>A	ENSP00000514565.1:n.*1577C>A
ENST00000699757.1:c.*1247C>A	ENSP00000514566.1:n.*1247C>A
ENST00000699758.1:c.*1247C>A	ENSP00000514567.1:n.*1247C>A
ENST00000699759.1:n.2844C>A
ENST00000699760.1:c.1672C>A	ENSP00000514568.1:p.Leu558Ile
ENST00000699761.1:c.1585C>A	ENSP00000514569.1:p.Leu529Ile
ENST00000699762.1:c.1417C>A	ENSP00000514570.1:p.Leu473Ile
ENST00000699763.1:c.*1080C>A	ENSP00000514571.1:n.*1080C>A
ENST00000699764.1:c.*308C>A	ENSP00000514572.1:n.*308C>A
ENST00000699765.1:c.*1086C>A	ENSP00000514573.1:n.*1086C>A
ENST00000699766.1:c.1990C>A	ENSP00000514574.1:p.Leu664Ile
ENST00000699767.1:c.1990C>A	ENSP00000514575.1:p.Leu664Ile
ENST00000699768.1:c.1990C>A	ENSP00000514576.1:p.Leu664Ile
ENST00000699811.1:c.1585C>A	ENSP00000514614.1:p.Leu529Ile
ENST00000699813.1:n.2103C>A
ENST00000699814.1:c.1613C>A
ENST00000699815.1:c.*1521C>A	ENSP00000514616.1:n.*1521C>A
ENST00000699816.1:c.*880C>A	ENSP00000514617.1:n.*880C>A
ENST00000699817.1:c.*1584C>A	ENSP00000514618.1:n.*1584C>A
ENST00000699818.1:c.1585C>A	ENSP00000514619.1:p.Leu529Ile
ENST00000699819.1:c.*1147C>A	ENSP00000514620.1:n.*1147C>A
ENST00000699820.1:c.1144+3025C>A	ENSP00000514621.1:n.1144+3025C>A
ENST00000699821.1:c.1585C>A	ENSP00000514622.1:p.Leu529Ile
ENST00000699822.1:c.*1442C>A	ENSP00000514623.1:n.*1442C>A
ENST00000699823.1:c.1585C>A	ENSP00000514624.1:p.Leu529Ile
ENST00000699824.1:c.*1493C>A	ENSP00000514625.1:n.*1493C>A
ENST00000699825.1:c.1429C>A	ENSP00000514626.1:p.Leu477Ile
ENST00000699826.1:c.*1389C>A	ENSP00000514627.1:n.*1389C>A
ENST00000699827.1:c.1822C>A	ENSP00000514628.1:p.Leu608Ile
ENST00000699828.1:c.*1080C>A	ENSP00000514629.1:n.*1080C>A
ENST00000699833.1:n.3762C>A
ENST00000699837.1:c.1585C>A	ENSP00000514635.1:p.Leu529Ile
ENST00000699838.1:c.*1890C>A	ENSP00000514636.1:n.*1890C>A
ENST00000699839.1:c.2176C>A	ENSP00000514637.1:p.Leu726Ile
ENST00000699916.1:c.*1247C>A	ENSP00000514684.1:n.*1247C>A
ENST00000699917.1:c.*1439C>A	ENSP00000514685.1:n.*1439C>A
ENST00000699918.1:c.*1491C>A	ENSP00000514686.1:n.*1491C>A
ENST00000699919.1:c.*1577C>A	ENSP00000514687.1:n.*1577C>A
ENST00000699920.1:c.*1626C>A	ENSP00000514688.1:n.*1626C>A
ENST00000699928.1:c.989-3784C>A	ENSP00000514693.1:n.989-3784C>A
ENST00000699951.1:c.*1086C>A	ENSP00000514706.1:n.*1086C>A
ENST00000699952.1:c.803+10551C>A	ENSP00000514707.1:n.803+10551C>A
ENST00000265849.12:c.1990C>A MANE Select	ENSP00000265849.7:p.Leu664Ile
ENST00000642292.1:c.1585C>A	ENSP00000495524.1:p.Leu529Ile
ENST00000642456.1:c.1585C>A	ENSP00000493814.1:p.Leu529Ile
ENST00000643595.1:c.*1389C>A	ENSP00000494497.1:n.*1389C>A
ENST00000644110.1:c.1672C>A	ENSP00000496392.1:p.Leu558Ile
ENST00000265849.11:c.1990C>A	ENSP00000265849.7:p.Leu664Ile
ENST00000382321.5:c.804-3784C>A	ENSP00000371758.4:n.804-3784C>A
ENST00000406569.7:n.1678+312C>A
ENST00000441476.6:c.1672C>A	ENSP00000392843.2:p.Leu558Ile
ENST00000469652.1:n.63-3870C>A
NM_000535.5:c.1990C>A , LRG_161t1:c.1990C>A	NP_000526.1:p.Leu664Ile
NR_003085.2:n.2072C>A
XM_006715742.2:c.1984C>A	XP_006715805.1:p.Leu662Ile
XM_006715744.2:c.1057C>A	XP_006715807.1:p.Leu353Ile
XM_011515427.1:c.2035C>A	XP_011513729.1:p.Leu679Ile
XM_011515428.1:c.1879C>A	XP_011513730.1:p.Leu627Ile
XM_011515429.1:c.1672C>A	XP_011513731.1:p.Leu558Ile
XM_011515430.1:c.1672C>A	XP_011513732.1:p.Leu558Ile
NM_000535.6:c.1990C>A	NP_000526.2:p.Leu664Ile
NM_001322003.1:c.1585C>A	NP_001308932.1:p.Leu529Ile
NM_001322004.1:c.1585C>A	NP_001308933.1:p.Leu529Ile
NM_001322005.1:c.1585C>A	NP_001308934.1:p.Leu529Ile
NM_001322006.1:c.1834C>A	NP_001308935.1:p.Leu612Ile
NM_001322007.1:c.1672C>A	NP_001308936.1:p.Leu558Ile
NM_001322008.1:c.1672C>A	NP_001308937.1:p.Leu558Ile
NM_001322009.1:c.1585C>A	NP_001308938.1:p.Leu529Ile
NM_001322010.1:c.1429C>A	NP_001308939.1:p.Leu477Ile
NM_001322011.1:c.1057C>A	NP_001308940.1:p.Leu353Ile
NM_001322012.1:c.1057C>A	NP_001308941.1:p.Leu353Ile
NM_001322013.1:c.1417C>A	NP_001308942.1:p.Leu473Ile
NM_001322014.1:c.1990C>A	NP_001308943.1:p.Leu664Ile
NM_001322015.1:c.1681C>A	NP_001308944.1:p.Leu561Ile
NR_136154.1:n.2077C>A
XM_006715744.4:c.1057C>A	XP_006715807.1:p.Leu353Ile
XM_017012342.2:c.1057C>A	XP_016867831.1:p.Leu353Ile
XM_024446800.1:c.1429C>A	XP_024302568.1:p.Leu477Ile
NM_000535.7:c.1990C>A MANE Select	NP_000526.2:p.Leu664Ile
NM_001322003.2:c.1585C>A	NP_001308932.1:p.Leu529Ile
NM_001322004.2:c.1585C>A	NP_001308933.1:p.Leu529Ile
NM_001322005.2:c.1585C>A	NP_001308934.1:p.Leu529Ile
NM_001322006.2:c.1834C>A	NP_001308935.1:p.Leu612Ile
NM_001322008.2:c.1672C>A	NP_001308937.1:p.Leu558Ile
NM_001322009.2:c.1585C>A	NP_001308938.1:p.Leu529Ile
NM_001322010.2:c.1429C>A	NP_001308939.1:p.Leu477Ile
NM_001322011.2:c.1057C>A	NP_001308940.1:p.Leu353Ile
NM_001322012.2:c.1057C>A	NP_001308941.1:p.Leu353Ile
NM_001322013.2:c.1417C>A	NP_001308942.1:p.Leu473Ile
NM_001322014.2:c.1990C>A	NP_001308943.1:p.Leu664Ile
NM_001322015.2:c.1681C>A	NP_001308944.1:p.Leu561Ile
NM_001322007.2:c.1672C>A	NP_001308936.1:p.Leu558Ile

Linked Data

Genomic Alleles

Transcript Alleles