Canonical Allele Identifier: CA560437

Gene: ESPN

Linked Data

• dbSNP Id: rs781386845
• ExAC: 1:6512085 G / T
• gnomAD v2: 1-6512085-G-T
• gnomAD v4: 1-6452025-G-T
• MyVariant Identifiers: chr1:g.6512085G>T (hg19) ; chr1:g.6452025G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6452025G>T , CM000663.2:g.6452025G>T	GRCh38
NC_000001.10:g.6512085G>T , CM000663.1:g.6512085G>T	GRCh37
NC_000001.9:g.6434672G>T	NCBI36
NG_015866.1:g.32238G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434576.2:c.284G>T
ENST00000461727.6:c.556G>T	ENSP00000465308.1:p.Glu186Ter
ENST00000475228.6:c.322G>T	ENSP00000488721.2:p.Glu108Ter
ENST00000477679.2:c.309G>T
ENST00000636330.1:c.2254G>T	ENSP00000490186.1:p.Glu752Ter
ENST00000636644.1:c.379G>T	ENSP00000490230.1:p.Glu127Ter
ENST00000645284.1:c.2254G>T MANE Select	ENSP00000496593.1:p.Glu752Ter
ENST00000377828.5:c.2254G>T	ENSP00000367059.1:p.Glu752Ter
ENST00000416731.5:c.556G>T	ENSP00000399239.2:p.Glu186Ter
ENST00000434576.1:c.284G>T
ENST00000461727.5:c.556G>T	ENSP00000465308.1:p.Glu186Ter
ENST00000475228.5:c.319G>T	ENSP00000488721.1:p.Glu107Ter
ENST00000477679.1:n.309G>T
ENST00000633239.1:c.403G>T	ENSP00000488071.1:p.Glu135Ter
NM_031475.2:c.2254G>T	NP_113663.2:p.Glu752Ter
XM_005263501.2:c.2191G>T	XP_005263558.1:p.Glu731Ter
XM_011542231.1:c.2191G>T	XP_011540533.1:p.Glu731Ter
XM_011542232.1:c.2164G>T	XP_011540534.1:p.Glu722Ter
XM_011542233.1:c.1795G>T	XP_011540535.1:p.Glu599Ter
XM_011542234.1:c.1132G>T	XP_011540536.1:p.Glu378Ter
XM_011542235.1:c.2164G>T	XP_011540537.1:p.Glu722Ter
XM_011542236.1:c.379G>T	XP_011540538.1:p.Glu127Ter
NM_031475.3:c.2254G>T MANE Select	NP_113663.2:p.Glu752Ter
XM_011542233.2:c.1795G>T	XP_011540535.1:p.Glu599Ter
XM_011542236.2:c.379G>T	XP_011540538.1:p.Glu127Ter
XM_017002433.1:c.2191G>T	XP_016857922.1:p.Glu731Ter
XM_024450116.1:c.2164G>T	XP_024305884.1:p.Glu722Ter
NM_001367473.1:c.2164G>T	NP_001354402.1:p.Glu722Ter
NM_001367474.1:c.2191G>T	NP_001354403.1:p.Glu731Ter