Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.30914008G>A , CM000677.2:g.30914008G>A	GRCh38
NC_000015.9:g.31206211G>A , CM000677.1:g.31206211G>A	GRCh37
NC_000015.8:g.28993503G>A	NCBI36
NG_032946.1:g.15157G>A
NG_032946.2:g.15157G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362065.9:c.1728G>A MANE Select	ENSP00000354497.4:p.Leu576=
ENST00000568145.6:n.604G>A
ENST00000602886.2:n.1905G>A
ENST00000654013.1:n.1802G>A
ENST00000654056.1:c.438G>A	ENSP00000499726.1:p.Leu146=
ENST00000655421.1:n.1999G>A
ENST00000656109.1:n.673G>A
ENST00000656307.1:n.1980G>A
ENST00000656435.1:c.1728G>A	ENSP00000499534.1:p.Leu576=
ENST00000657391.1:c.1728G>A	ENSP00000499703.1:p.Leu576=
ENST00000661974.1:c.1020G>A
ENST00000662114.1:n.2227G>A
ENST00000664070.1:c.*1268G>A	ENSP00000499478.1:n.*1268G>A
ENST00000664837.1:c.438G>A	ENSP00000499780.1:p.Leu146=
ENST00000665705.1:n.1765G>A
ENST00000665894.1:n.1988G>A
ENST00000666852.1:n.1980G>A
ENST00000667837.1:n.1459G>A
ENST00000670074.1:c.*470G>A	ENSP00000499252.1:n.*470G>A
ENST00000670849.1:c.1728G>A	ENSP00000499638.1:p.Leu576=
ENST00000362065.8:c.1728G>A	ENSP00000354497.4:p.Leu576=
ENST00000565280.5:c.*569G>A	ENSP00000455573.1:n.*569G>A
NM_014967.4:c.1728G>A	NP_055782.3:p.Leu576=
XM_005254232.3:c.1728G>A	XP_005254289.1:p.Leu576=
XM_005254234.3:c.1728G>A	XP_005254291.1:p.Leu576=
XM_005254235.3:c.1728G>A	XP_005254292.1:p.Leu576=
XM_005254236.2:c.1728G>A	XP_005254293.1:p.Leu576=
XM_011521370.1:c.546G>A	XP_011519672.1:p.Leu182=
XM_011521371.1:c.543G>A	XP_011519673.1:p.Leu181=
XM_011521372.1:c.1728G>A	XP_011519674.1:p.Leu576=
XM_005254232.4:c.1728G>A	XP_005254289.1:p.Leu576=
XM_005254234.5:c.1728G>A	XP_005254291.1:p.Leu576=
XM_011521370.2:c.546G>A	XP_011519672.1:p.Leu182=
XM_011521372.2:c.1728G>A	XP_011519674.1:p.Leu576=
XM_017022012.2:c.57G>A	XP_016877501.1:p.Leu19=
XM_017022013.1:c.57G>A	XP_016877502.1:p.Leu19=
XM_024449874.1:c.543G>A	XP_024305642.1:p.Leu181=
XR_001751149.1:n.2027G>A
XR_001751151.1:n.2023G>A
NM_014967.5:c.1728G>A MANE Select	NP_055782.3:p.Leu576=