Canonical Allele Identifier: CA359867310

Gene: ERBIN

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.66053957G>A , CM000667.2:g.66053957G>A	GRCh38
NC_000005.9:g.65349785G>A , CM000667.1:g.65349785G>A	GRCh37
NC_000005.8:g.65385541G>A	NCBI36
NG_031822.1:g.132404G>A
NG_031822.2:g.132404G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001253697.2:c.2639G>A MANE Select	NP_001240626.1:p.Gly880Glu
ENST00000284037.10:c.2639G>A MANE Select	ENSP00000284037.4:p.Gly880Glu
NM_001006600.2:c.2639G>A	NP_001006600.1:p.Gly880Glu
NM_001006600.3:c.2639G>A	NP_001006600.1:p.Gly880Glu
NM_001253697.1:c.2639G>A	NP_001240626.1:p.Gly880Glu
NM_001253698.1:c.2639G>A	NP_001240627.1:p.Gly880Glu
NM_001253698.2:c.2639G>A	NP_001240627.1:p.Gly880Glu
NM_001253699.1:c.2639G>A	NP_001240628.1:p.Gly880Glu
NM_001253699.2:c.2639G>A	NP_001240628.1:p.Gly880Glu
NM_001253701.1:c.2627G>A	NP_001240630.1:p.Gly876Glu
NM_001253701.2:c.2627G>A	NP_001240630.1:p.Gly876Glu
NM_018695.3:c.2639G>A	NP_061165.1:p.Gly880Glu
NM_018695.4:c.2639G>A	NP_061165.1:p.Gly880Glu
ENST00000284037.9:c.2639G>A	ENSP00000284037.4:p.Gly880Glu
ENST00000380935.5:c.2639G>A	ENSP00000370322.1:p.Gly880Glu
ENST00000380938.6:c.2639G>A	ENSP00000370325.2:p.Gly880Glu
ENST00000380943.6:c.2639G>A	ENSP00000370330.2:p.Gly880Glu
ENST00000416865.6:c.1207-14920G>A	ENSP00000397833.2:n.1207-14920G>A
ENST00000503913.6:c.2639G>A	ENSP00000514088.1:p.Gly880Glu
ENST00000506030.5:c.2639G>A	ENSP00000426632.1:p.Gly880Glu
ENST00000506030.6:c.2639G>A	ENSP00000426632.1:p.Gly880Glu
ENST00000508515.1:c.2639G>A	ENSP00000422015.1:p.Gly880Glu
ENST00000508515.2:c.2639G>A	ENSP00000422015.1:p.Gly880Glu
ENST00000511297.5:c.2627G>A	ENSP00000422766.1:p.Gly876Glu
ENST00000511671.6:c.2371G>A
ENST00000699000.1:c.2639G>A	ENSP00000514078.1:p.Gly880Glu
ENST00000699001.1:c.2639G>A	ENSP00000514079.1:p.Gly880Glu
ENST00000699002.1:c.2639G>A	ENSP00000514080.1:p.Gly880Glu
ENST00000699003.1:c.2639G>A	ENSP00000514081.1:p.Gly880Glu
ENST00000699004.1:c.2463+176G>A	ENSP00000514082.1:n.2463+176G>A
ENST00000699005.1:c.2627G>A	ENSP00000514083.1:p.Gly876Glu
ENST00000699006.1:c.2639G>A	ENSP00000514084.1:p.Gly880Glu
ENST00000699007.1:c.2639G>A	ENSP00000514085.1:p.Gly880Glu
ENST00000699008.1:c.2639G>A	ENSP00000514086.1:p.Gly880Glu
ENST00000699009.1:c.2639G>A	ENSP00000514087.1:p.Gly880Glu
ENST00000699010.1:c.2627G>A	ENSP00000514089.1:p.Gly876Glu
ENST00000699011.1:c.*2395G>A	ENSP00000514090.1:n.*2395G>A
ENST00000699012.1:c.*1374G>A	ENSP00000514091.1:n.*1374G>A
ENST00000699013.1:c.2124G>A
XM_005248554.1:c.2639G>A	XP_005248611.1:p.Gly880Glu
XM_005248554.3:c.2639G>A	XP_005248611.1:p.Gly880Glu
XM_005248555.2:c.2627G>A	XP_005248612.1:p.Gly876Glu
XM_005248555.4:c.2627G>A	XP_005248612.1:p.Gly876Glu
XM_006714660.2:c.2639G>A	XP_006714723.1:p.Gly880Glu
XM_006714660.4:c.2639G>A	XP_006714723.1:p.Gly880Glu
XM_011543514.1:c.2639G>A	XP_011541816.1:p.Gly880Glu
XM_017009635.2:c.2639G>A	XP_016865124.1:p.Gly880Glu
XM_017009636.2:c.2627G>A	XP_016865125.1:p.Gly876Glu
XM_017009637.2:c.2627G>A	XP_016865126.1:p.Gly876Glu