Canonical Allele Identifier: CA338100281

Gene: ESPN

Linked Data

• gnomAD v4: 1-6452090-G-C
• MyVariant Identifiers: chr1:g.6512150G>C (hg19) ; chr1:g.6452090G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6452090G>C , CM000663.2:g.6452090G>C	GRCh38
NC_000001.10:g.6512150G>C , CM000663.1:g.6512150G>C	GRCh37
NC_000001.9:g.6434737G>C	NCBI36
NG_015866.1:g.32303G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434576.2:c.349G>C
ENST00000461727.6:c.621G>C	ENSP00000465308.1:p.Arg207Ser
ENST00000475228.6:c.387G>C	ENSP00000488721.2:p.Arg129Ser
ENST00000477679.2:c.374G>C
ENST00000636330.1:c.2319G>C	ENSP00000490186.1:p.Arg773Ser
ENST00000636644.1:c.444G>C	ENSP00000490230.1:p.Arg148Ser
ENST00000645284.1:c.2319G>C MANE Select	ENSP00000496593.1:p.Arg773Ser
ENST00000377828.5:c.2319G>C	ENSP00000367059.1:p.Arg773Ser
ENST00000416731.5:c.621G>C	ENSP00000399239.2:p.Arg207Ser
ENST00000434576.1:c.349G>C
ENST00000461727.5:c.621G>C	ENSP00000465308.1:p.Arg207Ser
ENST00000475228.5:c.384G>C	ENSP00000488721.1:p.Arg128Ser
ENST00000477679.1:n.374G>C
ENST00000633239.1:c.468G>C	ENSP00000488071.1:p.Arg156Ser
NM_031475.2:c.2319G>C	NP_113663.2:p.Arg773Ser
XM_005263501.2:c.2256G>C	XP_005263558.1:p.Arg752Ser
XM_011542231.1:c.2256G>C	XP_011540533.1:p.Arg752Ser
XM_011542232.1:c.2229G>C	XP_011540534.1:p.Arg743Ser
XM_011542233.1:c.1860G>C	XP_011540535.1:p.Arg620Ser
XM_011542234.1:c.1197G>C	XP_011540536.1:p.Arg399Ser
XM_011542235.1:c.2229G>C	XP_011540537.1:p.Arg743Ser
XM_011542236.1:c.444G>C	XP_011540538.1:p.Arg148Ser
NM_031475.3:c.2319G>C MANE Select	NP_113663.2:p.Arg773Ser
XM_011542233.2:c.1860G>C	XP_011540535.1:p.Arg620Ser
XM_011542236.2:c.444G>C	XP_011540538.1:p.Arg148Ser
XM_017002433.1:c.2256G>C	XP_016857922.1:p.Arg752Ser
XM_024450116.1:c.2229G>C	XP_024305884.1:p.Arg743Ser
NM_001367473.1:c.2229G>C	NP_001354402.1:p.Arg743Ser
NM_001367474.1:c.2256G>C	NP_001354403.1:p.Arg752Ser