Canonical Allele Identifier: CA560168
Gene: ESPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6445719G>A , CM000663.2:g.6445719G>A GRCh38
NC_000001.10:g.6505779G>A , CM000663.1:g.6505779G>A GRCh37
NC_000001.9:g.6428366G>A NCBI36
NG_015866.1:g.25932G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636330.1:c.1248G>A ENSP00000490186.1:p.Pro416=
ENST00000645284.1:c.1248G>A MANE Select ENSP00000496593.1:p.Pro416=
ENST00000377828.5:c.1248G>A ENSP00000367059.1:p.Pro416=
ENST00000418286.1:c.603G>A ENSP00000401793.1:p.Pro201=
NM_031475.2:c.1248G>A NP_113663.2:p.Pro416=
XM_005263501.2:c.1248G>A XP_005263558.1:p.Pro416=
XM_011542231.1:c.1248G>A XP_011540533.1:p.Pro416=
XM_011542232.1:c.1248G>A XP_011540534.1:p.Pro416=
XM_011542233.1:c.852G>A XP_011540535.1:p.Pro284=
XM_011542234.1:c.189G>A XP_011540536.1:p.Pro63=
XM_011542235.1:c.1248G>A XP_011540537.1:p.Pro416=
XM_011542237.1:c.1248G>A XP_011540539.1:p.Pro416=
XM_011542238.1:c.1248G>A XP_011540540.1:p.Pro416=
XR_946774.1:n.1428G>A
XR_946775.1:n.1428G>A
NM_031475.3:c.1248G>A MANE Select NP_113663.2:p.Pro416=
XM_011542233.2:c.852G>A XP_011540535.1:p.Pro284=
XM_011542238.3:c.1248G>A XP_011540540.1:p.Pro416=
XM_017002433.1:c.1248G>A XP_016857922.1:p.Pro416=
XM_017002434.1:c.1248G>A XP_016857923.1:p.Pro416=
XM_024450116.1:c.1248G>A XP_024305884.1:p.Pro416=
NM_001367473.1:c.1248G>A NP_001354402.1:p.Pro416=
NM_001367474.1:c.1248G>A NP_001354403.1:p.Pro416=