Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121515313C>T , CM000672.2:g.121515313C>T	GRCh38
NC_000010.10:g.123274827C>T , CM000672.1:g.123274827C>T	GRCh37
NC_000010.9:g.123264817C>T	NCBI36
NG_012449.1:g.88146G>A
NG_012449.2:g.88146G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1094G>A MANE Plus Clinical	ENSP00000410294.2:p.Gly365Glu
ENST00000351936.11:c.1091G>A	ENSP00000309878.10:p.Gly364Glu
ENST00000638709.2:c.-80G>A	ENSP00000491912.2:n.-80G>A
ENST00000682296.1:n.439G>A
ENST00000682550.1:c.746G>A	ENSP00000507633.1:p.Gly249Glu
ENST00000682772.1:c.-80G>A	ENSP00000506848.1:n.-80G>A
ENST00000683211.1:c.1091G>A	ENSP00000508257.1:p.Gly364Glu
ENST00000683250.1:c.404-11372G>A	ENSP00000506847.1:n.404-11372G>A
ENST00000683418.1:n.3438G>A
ENST00000684153.1:c.746G>A	ENSP00000506937.1:p.Gly249Glu
ENST00000358487.10:c.1091G>A MANE Select	ENSP00000351276.6:p.Gly364Glu
ENST00000336553.10:c.824G>A	ENSP00000337665.6:p.Gly275Glu
ENST00000346997.6:c.1091G>A	ENSP00000263451.5:p.Gly364Glu
ENST00000351936.10:c.1097G>A	ENSP00000309878.9:p.Gly366Glu
ENST00000356226.8:c.746G>A	ENSP00000348559.4:p.Gly249Glu
ENST00000357555.9:c.824G>A	ENSP00000350166.5:p.Gly275Glu
ENST00000358487.9:c.1091G>A	ENSP00000351276.5:p.Gly364Glu
ENST00000360144.7:c.827G>A	ENSP00000353262.3:p.Gly276Glu
ENST00000369056.5:c.1094G>A	ENSP00000358052.1:p.Gly365Glu
ENST00000369058.7:c.1094G>A	ENSP00000358054.3:p.Gly365Glu
ENST00000369059.5:c.749G>A	ENSP00000358055.1:p.Gly250Glu
ENST00000369060.8:c.939+4666G>A	ENSP00000358056.4:n.939+4666G>A
ENST00000369061.8:c.755G>A	ENSP00000358057.4:p.Gly252Glu
ENST00000457416.6:c.1094G>A	ENSP00000410294.2:p.Gly365Glu
ENST00000463870.5:n.300G>A
ENST00000478859.5:c.407G>A	ENSP00000474011.1:p.Gly136Glu
ENST00000604236.5:c.*138G>A	ENSP00000474109.1:n.*138G>A
ENST00000613048.4:c.824G>A	ENSP00000484154.1:p.Gly275Glu
NM_000141.4:c.1091G>A	NP_000132.3:p.Gly364Glu
NM_001144913.1:c.1094G>A	NP_001138385.1:p.Gly365Glu
NM_001144914.1:c.755G>A	NP_001138386.1:p.Gly252Glu
NM_001144915.1:c.824G>A	NP_001138387.1:p.Gly275Glu
NM_001144916.1:c.746G>A	NP_001138388.1:p.Gly249Glu
NM_001144917.1:c.939+4666G>A	NP_001138389.1:n.939+4666G>A
NM_001144918.1:c.746G>A	NP_001138390.1:p.Gly249Glu
NM_001144919.1:c.827G>A	NP_001138391.1:p.Gly276Glu
NM_022970.3:c.1094G>A	NP_075259.4:p.Gly365Glu
NM_023029.2:c.824G>A	NP_075418.1:p.Gly275Glu
NR_073009.1:n.1541G>A
XM_006717708.2:c.1151G>A	XP_006717771.1:p.Gly384Glu
XM_006717709.2:c.1148G>A	XP_006717772.1:p.Gly383Glu
XM_006717710.2:c.1151G>A	XP_006717773.1:p.Gly384Glu
XM_006717711.2:c.884G>A	XP_006717774.1:p.Gly295Glu
XM_006717712.2:c.806G>A	XP_006717775.1:p.Gly269Glu
XM_006717713.2:c.1148G>A	XP_006717776.1:p.Gly383Glu
XM_011539510.1:c.407G>A	XP_011537812.1:p.Gly136Glu
NM_001320654.1:c.407G>A	NP_001307583.1:p.Gly136Glu
NM_001320658.1:c.1091G>A	NP_001307587.1:p.Gly364Glu
XM_006717708.3:c.1151G>A	XP_006717771.1:p.Gly384Glu
XM_006717710.4:c.1151G>A	XP_006717773.1:p.Gly384Glu
XM_017015920.2:c.1151G>A	XP_016871409.1:p.Gly384Glu
XM_017015921.2:c.1148G>A	XP_016871410.1:p.Gly383Glu
XM_017015924.2:c.803G>A	XP_016871413.1:p.Gly268Glu
XM_017015925.2:c.803G>A	XP_016871414.1:p.Gly268Glu
XM_024447887.1:c.881G>A	XP_024303655.1:p.Gly294Glu
XM_024447888.1:c.884G>A	XP_024303656.1:p.Gly295Glu
XM_024447889.1:c.881G>A	XP_024303657.1:p.Gly294Glu
XM_024447890.1:c.884G>A	XP_024303658.1:p.Gly295Glu
XM_024447891.1:c.806G>A	XP_024303659.1:p.Gly269Glu
XM_024447892.1:c.-80G>A	XP_024303660.1:n.-80G>A
NM_000141.5:c.1091G>A MANE Select	NP_000132.3:p.Gly364Glu
NM_001144917.2:c.939+4666G>A	NP_001138389.1:n.939+4666G>A
NM_001144918.2:c.746G>A	NP_001138390.1:p.Gly249Glu
NM_001144919.2:c.827G>A	NP_001138391.1:p.Gly276Glu
NM_001320658.2:c.1091G>A	NP_001307587.1:p.Gly364Glu
NR_073009.2:n.1527G>A
NM_001144915.2:c.824G>A	NP_001138387.1:p.Gly275Glu
NM_001144916.2:c.746G>A	NP_001138388.1:p.Gly249Glu
NM_001320654.2:c.407G>A	NP_001307583.1:p.Gly136Glu

Linked Data

Genomic Alleles

Transcript Alleles