Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.29666226G= , CM000668.2:g.29666226G=	GRCh38
NC_000006.11:g.29634003G= , CM000668.1:g.29634003G=	GRCh37
NC_000006.10:g.29741982G=	NCBI36
NG_031873.1:g.14246G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376917.8:c.511G= MANE Select	ENSP00000366115.3:p.Val171=
ENST00000376888.6:c.163G=	ENSP00000366085.2:p.Val55=
ENST00000376889.3:c.561G=
ENST00000376891.8:c.511G=	ENSP00000366088.4:p.Val171=
ENST00000376894.8:c.511G=	ENSP00000366091.4:p.Val171=
ENST00000376898.7:c.511G=	ENSP00000366095.3:p.Val171=
ENST00000376903.4:c.*368G=	ENSP00000366101.4:n.*368G=
ENST00000376917.7:c.511G=	ENSP00000366115.3:p.Val171=
ENST00000396701.6:c.511G=	ENSP00000379929.2:p.Val171=
ENST00000396704.7:c.511G=	ENSP00000379932.3:p.Val171=
ENST00000416766.6:c.437-1417G=	ENSP00000409394.2:n.437-1417G=
ENST00000431798.6:c.511G=	ENSP00000410866.2:p.Val171=
ENST00000483013.5:c.163G=	ENSP00000418090.1:p.Val55=
ENST00000485211.5:c.561G=
ENST00000490427.5:c.163G=	ENSP00000420350.1:p.Val55=
ENST00000494692.5:c.511G=	ENSP00000417405.1:p.Val171=
NM_001008228.2:c.511G=	NP_001008229.1:p.Val171=
NM_001008229.2:c.511G=	NP_001008230.1:p.Val171=
NM_001170418.1:c.163G=	NP_001163889.1:p.Val55=
NM_002433.4:c.511G=	NP_002424.3:p.Val171=
NM_206809.3:c.511G=	NP_996532.2:p.Val171=
NM_206810.3:c.511G=	NP_996533.2:p.Val171=
NM_206811.3:c.511G=	NP_996534.2:p.Val171=
NM_206812.3:c.511G=	NP_996535.2:p.Val171=
NM_206814.5:c.163G=	NP_996537.3:p.Val55=
XM_005249131.2:c.511G=	XP_005249188.1:p.Val171=
NM_001363610.1:c.511G=	NP_001350539.1:p.Val171=
NM_206809.4:c.511G= MANE Select	NP_996532.2:p.Val171=
NM_001008228.3:c.511G=	NP_001008229.1:p.Val171=
NM_001008229.3:c.511G=	NP_001008230.1:p.Val171=
NM_001170418.2:c.163G=	NP_001163889.1:p.Val55=
NM_001363610.2:c.511G=	NP_001350539.1:p.Val171=
NM_002433.5:c.511G=	NP_002424.3:p.Val171=
NM_206810.4:c.511G=	NP_996533.2:p.Val171=
NM_206811.4:c.511G=	NP_996534.2:p.Val171=
NM_206812.4:c.511G=	NP_996535.2:p.Val171=
NM_206814.6:c.163G=	NP_996537.3:p.Val55=