Canonical Allele Identifier: CA338100226

Gene: ESPN

Linked Data

• gnomAD v4: 1-6452070-C-A
• MyVariant Identifiers: chr1:g.6512130C>A (hg19) ; chr1:g.6452070C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6452070C>A , CM000663.2:g.6452070C>A	GRCh38
NC_000001.10:g.6512130C>A , CM000663.1:g.6512130C>A	GRCh37
NC_000001.9:g.6434717C>A	NCBI36
NG_015866.1:g.32283C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434576.2:c.329C>A
ENST00000461727.6:c.601C>A	ENSP00000465308.1:p.Gln201Lys
ENST00000475228.6:c.367C>A	ENSP00000488721.2:p.Gln123Lys
ENST00000477679.2:c.354C>A
ENST00000636330.1:c.2299C>A	ENSP00000490186.1:p.Gln767Lys
ENST00000636644.1:c.424C>A	ENSP00000490230.1:p.Gln142Lys
ENST00000645284.1:c.2299C>A MANE Select	ENSP00000496593.1:p.Gln767Lys
ENST00000377828.5:c.2299C>A	ENSP00000367059.1:p.Gln767Lys
ENST00000416731.5:c.601C>A	ENSP00000399239.2:p.Gln201Lys
ENST00000434576.1:c.329C>A
ENST00000461727.5:c.601C>A	ENSP00000465308.1:p.Gln201Lys
ENST00000475228.5:c.364C>A	ENSP00000488721.1:p.Gln122Lys
ENST00000477679.1:n.354C>A
ENST00000633239.1:c.448C>A	ENSP00000488071.1:p.Gln150Lys
NM_031475.2:c.2299C>A	NP_113663.2:p.Gln767Lys
XM_005263501.2:c.2236C>A	XP_005263558.1:p.Gln746Lys
XM_011542231.1:c.2236C>A	XP_011540533.1:p.Gln746Lys
XM_011542232.1:c.2209C>A	XP_011540534.1:p.Gln737Lys
XM_011542233.1:c.1840C>A	XP_011540535.1:p.Gln614Lys
XM_011542234.1:c.1177C>A	XP_011540536.1:p.Gln393Lys
XM_011542235.1:c.2209C>A	XP_011540537.1:p.Gln737Lys
XM_011542236.1:c.424C>A	XP_011540538.1:p.Gln142Lys
NM_031475.3:c.2299C>A MANE Select	NP_113663.2:p.Gln767Lys
XM_011542233.2:c.1840C>A	XP_011540535.1:p.Gln614Lys
XM_011542236.2:c.424C>A	XP_011540538.1:p.Gln142Lys
XM_017002433.1:c.2236C>A	XP_016857922.1:p.Gln746Lys
XM_024450116.1:c.2209C>A	XP_024305884.1:p.Gln737Lys
NM_001367473.1:c.2209C>A	NP_001354402.1:p.Gln737Lys
NM_001367474.1:c.2236C>A	NP_001354403.1:p.Gln746Lys