Canonical Allele Identifier: CA338099778

Gene: ESPN

Linked Data

• MyVariant Identifiers: chr1:g.6512073C>G (hg19) ; chr1:g.6452013C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6452013C>G , CM000663.2:g.6452013C>G	GRCh38
NC_000001.10:g.6512073C>G , CM000663.1:g.6512073C>G	GRCh37
NC_000001.9:g.6434660C>G	NCBI36
NG_015866.1:g.32226C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434576.2:c.272C>G
ENST00000461727.6:c.544C>G	ENSP00000465308.1:p.Arg182Gly
ENST00000475228.6:c.310C>G	ENSP00000488721.2:p.Arg104Gly
ENST00000477679.2:c.297C>G
ENST00000636330.1:c.2242C>G	ENSP00000490186.1:p.Arg748Gly
ENST00000636644.1:c.367C>G	ENSP00000490230.1:p.Arg123Gly
ENST00000645284.1:c.2242C>G MANE Select	ENSP00000496593.1:p.Arg748Gly
ENST00000377828.5:c.2242C>G	ENSP00000367059.1:p.Arg748Gly
ENST00000416731.5:c.544C>G	ENSP00000399239.2:p.Arg182Gly
ENST00000434576.1:c.272C>G
ENST00000461727.5:c.544C>G	ENSP00000465308.1:p.Arg182Gly
ENST00000475228.5:c.307C>G	ENSP00000488721.1:p.Arg103Gly
ENST00000477679.1:n.297C>G
ENST00000633239.1:c.391C>G	ENSP00000488071.1:p.Arg131Gly
NM_031475.2:c.2242C>G	NP_113663.2:p.Arg748Gly
XM_005263501.2:c.2179C>G	XP_005263558.1:p.Arg727Gly
XM_011542231.1:c.2179C>G	XP_011540533.1:p.Arg727Gly
XM_011542232.1:c.2152C>G	XP_011540534.1:p.Arg718Gly
XM_011542233.1:c.1783C>G	XP_011540535.1:p.Arg595Gly
XM_011542234.1:c.1120C>G	XP_011540536.1:p.Arg374Gly
XM_011542235.1:c.2152C>G	XP_011540537.1:p.Arg718Gly
XM_011542236.1:c.367C>G	XP_011540538.1:p.Arg123Gly
NM_031475.3:c.2242C>G MANE Select	NP_113663.2:p.Arg748Gly
XM_011542233.2:c.1783C>G	XP_011540535.1:p.Arg595Gly
XM_011542236.2:c.367C>G	XP_011540538.1:p.Arg123Gly
XM_017002433.1:c.2179C>G	XP_016857922.1:p.Arg727Gly
XM_024450116.1:c.2152C>G	XP_024305884.1:p.Arg718Gly
NM_001367473.1:c.2152C>G	NP_001354402.1:p.Arg718Gly
NM_001367474.1:c.2179C>G	NP_001354403.1:p.Arg727Gly