Canonical Allele Identifier: CA560429

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>T , CM000663.2:g.6452001G>T	GRCh38
NC_000001.10:g.6512061G>T , CM000663.1:g.6512061G>T	GRCh37
NC_000001.9:g.6434648G>T	NCBI36
NG_015866.1:g.32214G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434576.2:c.260G>T
ENST00000461727.6:c.532G>T	ENSP00000465308.1:p.Asp178Tyr
ENST00000475228.6:c.298G>T	ENSP00000488721.2:p.Asp100Tyr
ENST00000477679.2:c.285G>T
ENST00000636330.1:c.2230G>T	ENSP00000490186.1:p.Asp744Tyr
ENST00000636644.1:c.355G>T	ENSP00000490230.1:p.Asp119Tyr
ENST00000645284.1:c.2230G>T MANE Select	ENSP00000496593.1:p.Asp744Tyr
ENST00000377828.5:c.2230G>T	ENSP00000367059.1:p.Asp744Tyr
ENST00000416731.5:c.532G>T	ENSP00000399239.2:p.Asp178Tyr
ENST00000434576.1:c.260G>T
ENST00000461727.5:c.532G>T	ENSP00000465308.1:p.Asp178Tyr
ENST00000475228.5:c.295G>T	ENSP00000488721.1:p.Asp99Tyr
ENST00000477679.1:n.285G>T
ENST00000633239.1:c.379G>T	ENSP00000488071.1:p.Asp127Tyr
NM_031475.2:c.2230G>T	NP_113663.2:p.Asp744Tyr
XM_005263501.2:c.2167G>T	XP_005263558.1:p.Asp723Tyr
XM_011542231.1:c.2167G>T	XP_011540533.1:p.Asp723Tyr
XM_011542232.1:c.2140G>T	XP_011540534.1:p.Asp714Tyr
XM_011542233.1:c.1771G>T	XP_011540535.1:p.Asp591Tyr
XM_011542234.1:c.1108G>T	XP_011540536.1:p.Asp370Tyr
XM_011542235.1:c.2140G>T	XP_011540537.1:p.Asp714Tyr
XM_011542236.1:c.355G>T	XP_011540538.1:p.Asp119Tyr
NM_031475.3:c.2230G>T MANE Select	NP_113663.2:p.Asp744Tyr
XM_011542233.2:c.1771G>T	XP_011540535.1:p.Asp591Tyr
XM_011542236.2:c.355G>T	XP_011540538.1:p.Asp119Tyr
XM_017002433.1:c.2167G>T	XP_016857922.1:p.Asp723Tyr
XM_024450116.1:c.2140G>T	XP_024305884.1:p.Asp714Tyr
NM_001367473.1:c.2140G>T	NP_001354402.1:p.Asp714Tyr
NM_001367474.1:c.2167G>T	NP_001354403.1:p.Asp723Tyr