Canonical Allele Identifier: CA338099668

Gene: ESPN

Linked Data

• dbSNP Id: rs1303189650
• gnomAD v2: 1-6512055-A-C
• gnomAD v4: 1-6451995-A-C
• MyVariant Identifiers: chr1:g.6512055A>C (hg19) ; chr1:g.6451995A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6451995A>C , CM000663.2:g.6451995A>C	GRCh38
NC_000001.10:g.6512055A>C , CM000663.1:g.6512055A>C	GRCh37
NC_000001.9:g.6434642A>C	NCBI36
NG_015866.1:g.32208A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434576.2:c.254A>C
ENST00000461727.6:c.526A>C	ENSP00000465308.1:p.Thr176Pro
ENST00000475228.6:c.292A>C	ENSP00000488721.2:p.Thr98Pro
ENST00000477679.2:c.279A>C
ENST00000636330.1:c.2224A>C	ENSP00000490186.1:p.Thr742Pro
ENST00000636644.1:c.349A>C	ENSP00000490230.1:p.Thr117Pro
ENST00000645284.1:c.2224A>C MANE Select	ENSP00000496593.1:p.Thr742Pro
ENST00000377828.5:c.2224A>C	ENSP00000367059.1:p.Thr742Pro
ENST00000416731.5:c.526A>C	ENSP00000399239.2:p.Thr176Pro
ENST00000434576.1:c.254A>C
ENST00000461727.5:c.526A>C	ENSP00000465308.1:p.Thr176Pro
ENST00000475228.5:c.289A>C	ENSP00000488721.1:p.Thr97Pro
ENST00000477679.1:n.279A>C
ENST00000633239.1:c.373A>C	ENSP00000488071.1:p.Thr125Pro
NM_031475.2:c.2224A>C	NP_113663.2:p.Thr742Pro
XM_005263501.2:c.2161A>C	XP_005263558.1:p.Thr721Pro
XM_011542231.1:c.2161A>C	XP_011540533.1:p.Thr721Pro
XM_011542232.1:c.2134A>C	XP_011540534.1:p.Thr712Pro
XM_011542233.1:c.1765A>C	XP_011540535.1:p.Thr589Pro
XM_011542234.1:c.1102A>C	XP_011540536.1:p.Thr368Pro
XM_011542235.1:c.2134A>C	XP_011540537.1:p.Thr712Pro
XM_011542236.1:c.349A>C	XP_011540538.1:p.Thr117Pro
NM_031475.3:c.2224A>C MANE Select	NP_113663.2:p.Thr742Pro
XM_011542233.2:c.1765A>C	XP_011540535.1:p.Thr589Pro
XM_011542236.2:c.349A>C	XP_011540538.1:p.Thr117Pro
XM_017002433.1:c.2161A>C	XP_016857922.1:p.Thr721Pro
XM_024450116.1:c.2134A>C	XP_024305884.1:p.Thr712Pro
NM_001367473.1:c.2134A>C	NP_001354402.1:p.Thr712Pro
NM_001367474.1:c.2161A>C	NP_001354403.1:p.Thr721Pro