Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.121498510C>T , CM000672.2:g.121498510C>T	GRCh38
NC_000010.10:g.123258024C>T , CM000672.1:g.123258024C>T	GRCh37
NC_000010.9:g.123248014C>T	NCBI36
NG_012449.1:g.104949G>A
NG_012449.2:g.104949G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000457416.7:c.1660G>A MANE Plus Clinical	ENSP00000410294.2:p.Ala554Thr
ENST00000351936.11:c.1651G>A	ENSP00000309878.10:p.Ala551Thr
ENST00000638709.2:c.481G>A	ENSP00000491912.2:p.Ala161Thr
ENST00000682296.1:n.999G>A
ENST00000682550.1:c.1306G>A	ENSP00000507633.1:p.Ala436Thr
ENST00000682772.1:c.481G>A	ENSP00000506848.1:p.Ala161Thr
ENST00000682904.1:n.477G>A
ENST00000683211.1:c.1651G>A	ENSP00000508257.1:p.Ala551Thr
ENST00000683250.1:c.*359G>A	ENSP00000506847.1:n.*359G>A
ENST00000683418.1:n.3998G>A
ENST00000684153.1:c.1306G>A	ENSP00000506937.1:p.Ala436Thr
ENST00000684516.1:n.2670G>A
ENST00000358487.10:c.1657G>A MANE Select	ENSP00000351276.6:p.Ala553Thr
ENST00000336553.10:c.1384G>A	ENSP00000337665.6:p.Ala462Thr
ENST00000346997.6:c.1651G>A	ENSP00000263451.5:p.Ala551Thr
ENST00000351936.10:c.1657G>A	ENSP00000309878.9:p.Ala553Thr
ENST00000356226.8:c.1306G>A	ENSP00000348559.4:p.Ala436Thr
ENST00000357555.9:c.1390G>A	ENSP00000350166.5:p.Ala464Thr
ENST00000358487.9:c.1657G>A	ENSP00000351276.5:p.Ala553Thr
ENST00000360144.7:c.1393G>A	ENSP00000353262.3:p.Ala465Thr
ENST00000369056.5:c.1660G>A	ENSP00000358052.1:p.Ala554Thr
ENST00000369058.7:c.1660G>A	ENSP00000358054.3:p.Ala554Thr
ENST00000369059.5:c.1315G>A	ENSP00000358055.1:p.Ala439Thr
ENST00000369060.8:c.1309G>A	ENSP00000358056.4:p.Ala437Thr
ENST00000369061.8:c.1321G>A	ENSP00000358057.4:p.Ala441Thr
ENST00000429361.5:c.433G>A	ENSP00000404219.1:p.Ala145Thr
ENST00000457416.6:c.1660G>A	ENSP00000410294.2:p.Ala554Thr
ENST00000478859.5:c.973G>A	ENSP00000474011.1:p.Ala325Thr
ENST00000604236.5:c.*704G>A	ENSP00000474109.1:n.*704G>A
ENST00000613048.4:c.1390G>A	ENSP00000484154.1:p.Ala464Thr
NM_000141.4:c.1657G>A	NP_000132.3:p.Ala553Thr
NM_001144913.1:c.1660G>A	NP_001138385.1:p.Ala554Thr
NM_001144914.1:c.1321G>A	NP_001138386.1:p.Ala441Thr
NM_001144915.1:c.1390G>A	NP_001138387.1:p.Ala464Thr
NM_001144916.1:c.1312G>A	NP_001138388.1:p.Ala438Thr
NM_001144917.1:c.1309G>A	NP_001138389.1:p.Ala437Thr
NM_001144918.1:c.1306G>A	NP_001138390.1:p.Ala436Thr
NM_001144919.1:c.1393G>A	NP_001138391.1:p.Ala465Thr
NM_022970.3:c.1660G>A	NP_075259.4:p.Ala554Thr
NM_023029.2:c.1390G>A	NP_075418.1:p.Ala464Thr
NR_073009.1:n.2107G>A
XM_006717708.2:c.1711G>A	XP_006717771.1:p.Ala571Thr
XM_006717709.2:c.1708G>A	XP_006717772.1:p.Ala570Thr
XM_006717710.2:c.1717G>A	XP_006717773.1:p.Ala573Thr
XM_006717711.2:c.1450G>A	XP_006717774.1:p.Ala484Thr
XM_006717712.2:c.1372G>A	XP_006717775.1:p.Ala458Thr
XM_006717713.2:c.1714G>A	XP_006717776.1:p.Ala572Thr
XM_011539510.1:c.973G>A	XP_011537812.1:p.Ala325Thr
NM_001320654.1:c.973G>A	NP_001307583.1:p.Ala325Thr
NM_001320658.1:c.1651G>A	NP_001307587.1:p.Ala551Thr
XM_006717708.3:c.1711G>A	XP_006717771.1:p.Ala571Thr
XM_006717710.4:c.1717G>A	XP_006717773.1:p.Ala573Thr
XM_017015920.2:c.1711G>A	XP_016871409.1:p.Ala571Thr
XM_017015921.2:c.1708G>A	XP_016871410.1:p.Ala570Thr
XM_017015924.2:c.1369G>A	XP_016871413.1:p.Ala457Thr
XM_017015925.2:c.1363G>A	XP_016871414.1:p.Ala455Thr
XM_024447887.1:c.1447G>A	XP_024303655.1:p.Ala483Thr
XM_024447888.1:c.1444G>A	XP_024303656.1:p.Ala482Thr
XM_024447889.1:c.1441G>A	XP_024303657.1:p.Ala481Thr
XM_024447890.1:c.1450G>A	XP_024303658.1:p.Ala484Thr
XM_024447891.1:c.1372G>A	XP_024303659.1:p.Ala458Thr
XM_024447892.1:c.487G>A	XP_024303660.1:p.Ala163Thr
NM_000141.5:c.1657G>A MANE Select	NP_000132.3:p.Ala553Thr
NM_001144917.2:c.1309G>A	NP_001138389.1:p.Ala437Thr
NM_001144918.2:c.1306G>A	NP_001138390.1:p.Ala436Thr
NM_001144919.2:c.1393G>A	NP_001138391.1:p.Ala465Thr
NM_001320658.2:c.1651G>A	NP_001307587.1:p.Ala551Thr
NR_073009.2:n.2093G>A
NM_001144915.2:c.1390G>A	NP_001138387.1:p.Ala464Thr
NM_001144916.2:c.1312G>A	NP_001138388.1:p.Ala438Thr
NM_001320654.2:c.973G>A	NP_001307583.1:p.Ala325Thr

Linked Data

Genomic Alleles

Transcript Alleles