Canonical Allele Identifier: CA338099729

Gene: ESPN

Linked Data

• MyVariant Identifiers: chr1:g.6512064G>C (hg19) ; chr1:g.6452004G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6452004G>C , CM000663.2:g.6452004G>C	GRCh38
NC_000001.10:g.6512064G>C , CM000663.1:g.6512064G>C	GRCh37
NC_000001.9:g.6434651G>C	NCBI36
NG_015866.1:g.32217G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434576.2:c.263G>C
ENST00000461727.6:c.535G>C	ENSP00000465308.1:p.Glu179Gln
ENST00000475228.6:c.301G>C	ENSP00000488721.2:p.Glu101Gln
ENST00000477679.2:c.288G>C
ENST00000636330.1:c.2233G>C	ENSP00000490186.1:p.Glu745Gln
ENST00000636644.1:c.358G>C	ENSP00000490230.1:p.Glu120Gln
ENST00000645284.1:c.2233G>C MANE Select	ENSP00000496593.1:p.Glu745Gln
ENST00000377828.5:c.2233G>C	ENSP00000367059.1:p.Glu745Gln
ENST00000416731.5:c.535G>C	ENSP00000399239.2:p.Glu179Gln
ENST00000434576.1:c.263G>C
ENST00000461727.5:c.535G>C	ENSP00000465308.1:p.Glu179Gln
ENST00000475228.5:c.298G>C	ENSP00000488721.1:p.Glu100Gln
ENST00000477679.1:n.288G>C
ENST00000633239.1:c.382G>C	ENSP00000488071.1:p.Glu128Gln
NM_031475.2:c.2233G>C	NP_113663.2:p.Glu745Gln
XM_005263501.2:c.2170G>C	XP_005263558.1:p.Glu724Gln
XM_011542231.1:c.2170G>C	XP_011540533.1:p.Glu724Gln
XM_011542232.1:c.2143G>C	XP_011540534.1:p.Glu715Gln
XM_011542233.1:c.1774G>C	XP_011540535.1:p.Glu592Gln
XM_011542234.1:c.1111G>C	XP_011540536.1:p.Glu371Gln
XM_011542235.1:c.2143G>C	XP_011540537.1:p.Glu715Gln
XM_011542236.1:c.358G>C	XP_011540538.1:p.Glu120Gln
NM_031475.3:c.2233G>C MANE Select	NP_113663.2:p.Glu745Gln
XM_011542233.2:c.1774G>C	XP_011540535.1:p.Glu592Gln
XM_011542236.2:c.358G>C	XP_011540538.1:p.Glu120Gln
XM_017002433.1:c.2170G>C	XP_016857922.1:p.Glu724Gln
XM_024450116.1:c.2143G>C	XP_024305884.1:p.Glu715Gln
NM_001367473.1:c.2143G>C	NP_001354402.1:p.Glu715Gln
NM_001367474.1:c.2170G>C	NP_001354403.1:p.Glu724Gln