Canonical Allele Identifier: CA338099696

Gene: ESPN

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6452001G>C , CM000663.2:g.6452001G>C	GRCh38
NC_000001.10:g.6512061G>C , CM000663.1:g.6512061G>C	GRCh37
NC_000001.9:g.6434648G>C	NCBI36
NG_015866.1:g.32214G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434576.2:c.260G>C
ENST00000461727.6:c.532G>C	ENSP00000465308.1:p.Asp178His
ENST00000475228.6:c.298G>C	ENSP00000488721.2:p.Asp100His
ENST00000477679.2:c.285G>C
ENST00000636330.1:c.2230G>C	ENSP00000490186.1:p.Asp744His
ENST00000636644.1:c.355G>C	ENSP00000490230.1:p.Asp119His
ENST00000645284.1:c.2230G>C MANE Select	ENSP00000496593.1:p.Asp744His
ENST00000377828.5:c.2230G>C	ENSP00000367059.1:p.Asp744His
ENST00000416731.5:c.532G>C	ENSP00000399239.2:p.Asp178His
ENST00000434576.1:c.260G>C
ENST00000461727.5:c.532G>C	ENSP00000465308.1:p.Asp178His
ENST00000475228.5:c.295G>C	ENSP00000488721.1:p.Asp99His
ENST00000477679.1:n.285G>C
ENST00000633239.1:c.379G>C	ENSP00000488071.1:p.Asp127His
NM_031475.2:c.2230G>C	NP_113663.2:p.Asp744His
XM_005263501.2:c.2167G>C	XP_005263558.1:p.Asp723His
XM_011542231.1:c.2167G>C	XP_011540533.1:p.Asp723His
XM_011542232.1:c.2140G>C	XP_011540534.1:p.Asp714His
XM_011542233.1:c.1771G>C	XP_011540535.1:p.Asp591His
XM_011542234.1:c.1108G>C	XP_011540536.1:p.Asp370His
XM_011542235.1:c.2140G>C	XP_011540537.1:p.Asp714His
XM_011542236.1:c.355G>C	XP_011540538.1:p.Asp119His
NM_031475.3:c.2230G>C MANE Select	NP_113663.2:p.Asp744His
XM_011542233.2:c.1771G>C	XP_011540535.1:p.Asp591His
XM_011542236.2:c.355G>C	XP_011540538.1:p.Asp119His
XM_017002433.1:c.2167G>C	XP_016857922.1:p.Asp723His
XM_024450116.1:c.2140G>C	XP_024305884.1:p.Asp714His
NM_001367473.1:c.2140G>C	NP_001354402.1:p.Asp714His
NM_001367474.1:c.2167G>C	NP_001354403.1:p.Asp723His