Canonical Allele Identifier: CA416021410

Gene: ESPN

Linked Data

• gnomAD v4: 1-6452042-G-T
• MyVariant Identifiers: chr1:g.6512102G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6452042G>T , CM000663.2:g.6452042G>T	GRCh38
NC_000001.10:g.6512102G>T , CM000663.1:g.6512102G>T	GRCh37
NC_000001.9:g.6434689G>T	NCBI36
NG_015866.1:g.32255G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434576.2:c.301G>T
ENST00000461727.6:c.573G>T	ENSP00000465308.1:p.Val191=
ENST00000475228.6:c.339G>T	ENSP00000488721.2:p.Val113=
ENST00000477679.2:c.326G>T
ENST00000636330.1:c.2271G>T	ENSP00000490186.1:p.Val757=
ENST00000636644.1:c.396G>T	ENSP00000490230.1:p.Val132=
ENST00000645284.1:c.2271G>T MANE Select	ENSP00000496593.1:p.Val757=
ENST00000377828.5:c.2271G>T	ENSP00000367059.1:p.Val757=
ENST00000416731.5:c.573G>T	ENSP00000399239.2:p.Val191=
ENST00000434576.1:c.301G>T
ENST00000461727.5:c.573G>T	ENSP00000465308.1:p.Val191=
ENST00000475228.5:c.336G>T	ENSP00000488721.1:p.Val112=
ENST00000477679.1:n.326G>T
ENST00000633239.1:c.420G>T	ENSP00000488071.1:p.Val140=
NM_031475.2:c.2271G>T	NP_113663.2:p.Val757=
XM_005263501.2:c.2208G>T	XP_005263558.1:p.Val736=
XM_011542231.1:c.2208G>T	XP_011540533.1:p.Val736=
XM_011542232.1:c.2181G>T	XP_011540534.1:p.Val727=
XM_011542233.1:c.1812G>T	XP_011540535.1:p.Val604=
XM_011542234.1:c.1149G>T	XP_011540536.1:p.Val383=
XM_011542235.1:c.2181G>T	XP_011540537.1:p.Val727=
XM_011542236.1:c.396G>T	XP_011540538.1:p.Val132=
NM_031475.3:c.2271G>T MANE Select	NP_113663.2:p.Val757=
XM_011542233.2:c.1812G>T	XP_011540535.1:p.Val604=
XM_011542236.2:c.396G>T	XP_011540538.1:p.Val132=
XM_017002433.1:c.2208G>T	XP_016857922.1:p.Val736=
XM_024450116.1:c.2181G>T	XP_024305884.1:p.Val727=
NM_001367473.1:c.2181G>T	NP_001354402.1:p.Val727=
NM_001367474.1:c.2208G>T	NP_001354403.1:p.Val736=