Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121515121A>G , CM000672.2:g.121515121A>G	GRCh38
NC_000010.10:g.123274635A>G , CM000672.1:g.123274635A>G	GRCh37
NC_000010.9:g.123264625A>G	NCBI36
NG_012449.1:g.88338T>C
NG_012449.2:g.88338T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1286T>C MANE Plus Clinical	ENSP00000410294.2:p.Val429Ala
ENST00000351936.11:c.1281+2T>C	ENSP00000309878.10:n.1281+2T>C
ENST00000638709.2:c.111+2T>C	ENSP00000491912.2:n.111+2T>C
ENST00000682296.1:n.629+2T>C
ENST00000682550.1:c.936+2T>C	ENSP00000507633.1:n.936+2T>C
ENST00000682772.1:c.111+2T>C	ENSP00000506848.1:n.111+2T>C
ENST00000683211.1:c.1281+2T>C	ENSP00000508257.1:n.1281+2T>C
ENST00000683250.1:c.404-11180T>C	ENSP00000506847.1:n.404-11180T>C
ENST00000683418.1:n.3628+2T>C
ENST00000684153.1:c.936+2T>C	ENSP00000506937.1:n.936+2T>C
ENST00000358487.10:c.1283T>C MANE Select	ENSP00000351276.6:p.Val428Ala
ENST00000336553.10:c.1014+2T>C	ENSP00000337665.6:n.1014+2T>C
ENST00000346997.6:c.1281+2T>C	ENSP00000263451.5:n.1281+2T>C
ENST00000351936.10:c.1287+2T>C	ENSP00000309878.9:n.1287+2T>C
ENST00000356226.8:c.936+2T>C	ENSP00000348559.4:n.936+2T>C
ENST00000357555.9:c.1016T>C	ENSP00000350166.5:p.Val339Ala
ENST00000358487.9:c.1283T>C	ENSP00000351276.5:p.Val428Ala
ENST00000360144.7:c.1019T>C	ENSP00000353262.3:p.Val340Ala
ENST00000369056.5:c.1286T>C	ENSP00000358052.1:p.Val429Ala
ENST00000369058.7:c.1286T>C	ENSP00000358054.3:p.Val429Ala
ENST00000369059.5:c.941T>C	ENSP00000358055.1:p.Val314Ala
ENST00000369060.8:c.939+4858T>C	ENSP00000358056.4:n.939+4858T>C
ENST00000369061.8:c.947T>C	ENSP00000358057.4:p.Val316Ala
ENST00000429361.5:c.59T>C	ENSP00000404219.1:p.Val20Ala
ENST00000457416.6:c.1286T>C	ENSP00000410294.2:p.Val429Ala
ENST00000478859.5:c.599T>C	ENSP00000474011.1:p.Val200Ala
ENST00000604236.5:c.*330T>C	ENSP00000474109.1:n.*330T>C
ENST00000613048.4:c.1016T>C	ENSP00000484154.1:p.Val339Ala
NM_000141.4:c.1283T>C	NP_000132.3:p.Val428Ala
NM_001144913.1:c.1286T>C	NP_001138385.1:p.Val429Ala
NM_001144914.1:c.947T>C	NP_001138386.1:p.Val316Ala
NM_001144915.1:c.1016T>C	NP_001138387.1:p.Val339Ala
NM_001144916.1:c.938T>C	NP_001138388.1:p.Val313Ala
NM_001144917.1:c.939+4858T>C	NP_001138389.1:n.939+4858T>C
NM_001144918.1:c.936+2T>C	NP_001138390.1:n.936+2T>C
NM_001144919.1:c.1019T>C	NP_001138391.1:p.Val340Ala
NM_022970.3:c.1286T>C	NP_075259.4:p.Val429Ala
NM_023029.2:c.1016T>C	NP_075418.1:p.Val339Ala
NR_073009.1:n.1733T>C
XM_006717708.2:c.1341+2T>C	XP_006717771.1:n.1341+2T>C
XM_006717709.2:c.1338+2T>C	XP_006717772.1:n.1338+2T>C
XM_006717710.2:c.1343T>C	XP_006717773.1:p.Val448Ala
XM_006717711.2:c.1076T>C	XP_006717774.1:p.Val359Ala
XM_006717712.2:c.998T>C	XP_006717775.1:p.Val333Ala
XM_006717713.2:c.1340T>C	XP_006717776.1:p.Val447Ala
XM_011539510.1:c.599T>C	XP_011537812.1:p.Val200Ala
NM_001320654.1:c.599T>C	NP_001307583.1:p.Val200Ala
NM_001320658.1:c.1281+2T>C	NP_001307587.1:n.1281+2T>C
XM_006717708.3:c.1341+2T>C	XP_006717771.1:n.1341+2T>C
XM_006717710.4:c.1343T>C	XP_006717773.1:p.Val448Ala
XM_017015920.2:c.1341+2T>C	XP_016871409.1:n.1341+2T>C
XM_017015921.2:c.1338+2T>C	XP_016871410.1:n.1338+2T>C
XM_017015924.2:c.995T>C	XP_016871413.1:p.Val332Ala
XM_017015925.2:c.993+2T>C	XP_016871414.1:n.993+2T>C
XM_024447887.1:c.1073T>C	XP_024303655.1:p.Val358Ala
XM_024447888.1:c.1074+2T>C	XP_024303656.1:n.1074+2T>C
XM_024447889.1:c.1071+2T>C	XP_024303657.1:n.1071+2T>C
XM_024447890.1:c.1076T>C	XP_024303658.1:p.Val359Ala
XM_024447891.1:c.998T>C	XP_024303659.1:p.Val333Ala
XM_024447892.1:c.113T>C	XP_024303660.1:p.Val38Ala
NM_000141.5:c.1283T>C MANE Select	NP_000132.3:p.Val428Ala
NM_001144917.2:c.939+4858T>C	NP_001138389.1:n.939+4858T>C
NM_001144918.2:c.936+2T>C	NP_001138390.1:n.936+2T>C
NM_001144919.2:c.1019T>C	NP_001138391.1:p.Val340Ala
NM_001320658.2:c.1281+2T>C	NP_001307587.1:n.1281+2T>C
NR_073009.2:n.1719T>C
NM_001144915.2:c.1016T>C	NP_001138387.1:p.Val339Ala
NM_001144916.2:c.938T>C	NP_001138388.1:p.Val313Ala
NM_001320654.2:c.599T>C	NP_001307583.1:p.Val200Ala

Linked Data

Genomic Alleles

Transcript Alleles