Canonical Allele Identifier: CA338099754

Gene: ESPN

Linked Data

• gnomAD v4: 1-6452008-A-G
• MyVariant Identifiers: chr1:g.6512068A>G (hg19) ; chr1:g.6452008A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6452008A>G , CM000663.2:g.6452008A>G	GRCh38
NC_000001.10:g.6512068A>G , CM000663.1:g.6512068A>G	GRCh37
NC_000001.9:g.6434655A>G	NCBI36
NG_015866.1:g.32221A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434576.2:c.267A>G
ENST00000461727.6:c.539A>G	ENSP00000465308.1:p.Gln180Arg
ENST00000475228.6:c.305A>G	ENSP00000488721.2:p.Gln102Arg
ENST00000477679.2:c.292A>G
ENST00000636330.1:c.2237A>G	ENSP00000490186.1:p.Gln746Arg
ENST00000636644.1:c.362A>G	ENSP00000490230.1:p.Gln121Arg
ENST00000645284.1:c.2237A>G MANE Select	ENSP00000496593.1:p.Gln746Arg
ENST00000377828.5:c.2237A>G	ENSP00000367059.1:p.Gln746Arg
ENST00000416731.5:c.539A>G	ENSP00000399239.2:p.Gln180Arg
ENST00000434576.1:c.267A>G
ENST00000461727.5:c.539A>G	ENSP00000465308.1:p.Gln180Arg
ENST00000475228.5:c.302A>G	ENSP00000488721.1:p.Gln101Arg
ENST00000477679.1:n.292A>G
ENST00000633239.1:c.386A>G	ENSP00000488071.1:p.Gln129Arg
NM_031475.2:c.2237A>G	NP_113663.2:p.Gln746Arg
XM_005263501.2:c.2174A>G	XP_005263558.1:p.Gln725Arg
XM_011542231.1:c.2174A>G	XP_011540533.1:p.Gln725Arg
XM_011542232.1:c.2147A>G	XP_011540534.1:p.Gln716Arg
XM_011542233.1:c.1778A>G	XP_011540535.1:p.Gln593Arg
XM_011542234.1:c.1115A>G	XP_011540536.1:p.Gln372Arg
XM_011542235.1:c.2147A>G	XP_011540537.1:p.Gln716Arg
XM_011542236.1:c.362A>G	XP_011540538.1:p.Gln121Arg
NM_031475.3:c.2237A>G MANE Select	NP_113663.2:p.Gln746Arg
XM_011542233.2:c.1778A>G	XP_011540535.1:p.Gln593Arg
XM_011542236.2:c.362A>G	XP_011540538.1:p.Gln121Arg
XM_017002433.1:c.2174A>G	XP_016857922.1:p.Gln725Arg
XM_024450116.1:c.2147A>G	XP_024305884.1:p.Gln716Arg
NM_001367473.1:c.2147A>G	NP_001354402.1:p.Gln716Arg
NM_001367474.1:c.2174A>G	NP_001354403.1:p.Gln725Arg