Canonical Allele Identifier: CA338099287

Gene: ESPN

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6451839T>G , CM000663.2:g.6451839T>G	GRCh38
NC_000001.10:g.6511899T>G , CM000663.1:g.6511899T>G	GRCh37
NC_000001.9:g.6434486T>G	NCBI36
NG_015866.1:g.32052T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_031475.3:c.2068T>G MANE Select	NP_113663.2:p.Ser690Ala
ENST00000645284.1:c.2068T>G MANE Select	ENSP00000496593.1:p.Ser690Ala
NM_001367473.1:c.1978T>G	NP_001354402.1:p.Ser660Ala
NM_001367474.1:c.2005T>G	NP_001354403.1:p.Ser669Ala
NM_031475.2:c.2068T>G	NP_113663.2:p.Ser690Ala
ENST00000377828.5:c.2068T>G	ENSP00000367059.1:p.Ser690Ala
ENST00000416731.5:c.370T>G	ENSP00000399239.2:p.Ser124Ala
ENST00000434576.1:c.98T>G
ENST00000434576.2:c.98T>G
ENST00000461727.5:c.370T>G	ENSP00000465308.1:p.Ser124Ala
ENST00000461727.6:c.370T>G	ENSP00000465308.1:p.Ser124Ala
ENST00000475228.5:c.133T>G	ENSP00000488721.1:p.Ser45Ala
ENST00000475228.6:c.136T>G	ENSP00000488721.2:p.Ser46Ala
ENST00000475479.2:n.250T>G
ENST00000477679.1:n.123T>G
ENST00000477679.2:c.123T>G
ENST00000633239.1:c.217T>G	ENSP00000488071.1:p.Ser73Ala
ENST00000636330.1:c.2068T>G	ENSP00000490186.1:p.Ser690Ala
ENST00000636644.1:c.193T>G	ENSP00000490230.1:p.Ser65Ala
XM_005263501.2:c.2005T>G	XP_005263558.1:p.Ser669Ala
XM_011542231.1:c.2005T>G	XP_011540533.1:p.Ser669Ala
XM_011542232.1:c.1978T>G	XP_011540534.1:p.Ser660Ala
XM_011542233.1:c.1609T>G	XP_011540535.1:p.Ser537Ala
XM_011542233.2:c.1609T>G	XP_011540535.1:p.Ser537Ala
XM_011542234.1:c.946T>G	XP_011540536.1:p.Ser316Ala
XM_011542235.1:c.1978T>G	XP_011540537.1:p.Ser660Ala
XM_011542236.1:c.193T>G	XP_011540538.1:p.Ser65Ala
XM_011542236.2:c.193T>G	XP_011540538.1:p.Ser65Ala
XM_017002433.1:c.2005T>G	XP_016857922.1:p.Ser669Ala
XM_024450116.1:c.1978T>G	XP_024305884.1:p.Ser660Ala