Canonical Allele Identifier: CA338100139
Gene: ESPN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6452059A>C , CM000663.2:g.6452059A>C GRCh38
NC_000001.10:g.6512119A>C , CM000663.1:g.6512119A>C GRCh37
NC_000001.9:g.6434706A>C NCBI36
NG_015866.1:g.32272A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000434576.2:c.318A>C
ENST00000461727.6:c.590A>C ENSP00000465308.1:p.Gln197Pro
ENST00000475228.6:c.356A>C ENSP00000488721.2:p.Gln119Pro
ENST00000477679.2:c.343A>C
ENST00000636330.1:c.2288A>C ENSP00000490186.1:p.Gln763Pro
ENST00000636644.1:c.413A>C ENSP00000490230.1:p.Gln138Pro
ENST00000645284.1:c.2288A>C MANE Select ENSP00000496593.1:p.Gln763Pro
ENST00000377828.5:c.2288A>C ENSP00000367059.1:p.Gln763Pro
ENST00000416731.5:c.590A>C ENSP00000399239.2:p.Gln197Pro
ENST00000434576.1:c.318A>C
ENST00000461727.5:c.590A>C ENSP00000465308.1:p.Gln197Pro
ENST00000475228.5:c.353A>C ENSP00000488721.1:p.Gln118Pro
ENST00000477679.1:n.343A>C
ENST00000633239.1:c.437A>C ENSP00000488071.1:p.Gln146Pro
NM_031475.2:c.2288A>C NP_113663.2:p.Gln763Pro
XM_005263501.2:c.2225A>C XP_005263558.1:p.Gln742Pro
XM_011542231.1:c.2225A>C XP_011540533.1:p.Gln742Pro
XM_011542232.1:c.2198A>C XP_011540534.1:p.Gln733Pro
XM_011542233.1:c.1829A>C XP_011540535.1:p.Gln610Pro
XM_011542234.1:c.1166A>C XP_011540536.1:p.Gln389Pro
XM_011542235.1:c.2198A>C XP_011540537.1:p.Gln733Pro
XM_011542236.1:c.413A>C XP_011540538.1:p.Gln138Pro
NM_031475.3:c.2288A>C MANE Select NP_113663.2:p.Gln763Pro
XM_011542233.2:c.1829A>C XP_011540535.1:p.Gln610Pro
XM_011542236.2:c.413A>C XP_011540538.1:p.Gln138Pro
XM_017002433.1:c.2225A>C XP_016857922.1:p.Gln742Pro
XM_024450116.1:c.2198A>C XP_024305884.1:p.Gln733Pro
NM_001367473.1:c.2198A>C NP_001354402.1:p.Gln733Pro
NM_001367474.1:c.2225A>C NP_001354403.1:p.Gln742Pro