Canonical Allele Identifier: CA338100067

Gene: ESPN

Linked Data

• MyVariant Identifiers: chr1:g.6512112A>T (hg19) ; chr1:g.6452052A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6452052A>T , CM000663.2:g.6452052A>T	GRCh38
NC_000001.10:g.6512112A>T , CM000663.1:g.6512112A>T	GRCh37
NC_000001.9:g.6434699A>T	NCBI36
NG_015866.1:g.32265A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434576.2:c.311A>T
ENST00000461727.6:c.583A>T	ENSP00000465308.1:p.Lys195Ter
ENST00000475228.6:c.349A>T	ENSP00000488721.2:p.Lys117Ter
ENST00000477679.2:c.336A>T
ENST00000636330.1:c.2281A>T	ENSP00000490186.1:p.Lys761Ter
ENST00000636644.1:c.406A>T	ENSP00000490230.1:p.Lys136Ter
ENST00000645284.1:c.2281A>T MANE Select	ENSP00000496593.1:p.Lys761Ter
ENST00000377828.5:c.2281A>T	ENSP00000367059.1:p.Lys761Ter
ENST00000416731.5:c.583A>T	ENSP00000399239.2:p.Lys195Ter
ENST00000434576.1:c.311A>T
ENST00000461727.5:c.583A>T	ENSP00000465308.1:p.Lys195Ter
ENST00000475228.5:c.346A>T	ENSP00000488721.1:p.Lys116Ter
ENST00000477679.1:n.336A>T
ENST00000633239.1:c.430A>T	ENSP00000488071.1:p.Lys144Ter
NM_031475.2:c.2281A>T	NP_113663.2:p.Lys761Ter
XM_005263501.2:c.2218A>T	XP_005263558.1:p.Lys740Ter
XM_011542231.1:c.2218A>T	XP_011540533.1:p.Lys740Ter
XM_011542232.1:c.2191A>T	XP_011540534.1:p.Lys731Ter
XM_011542233.1:c.1822A>T	XP_011540535.1:p.Lys608Ter
XM_011542234.1:c.1159A>T	XP_011540536.1:p.Lys387Ter
XM_011542235.1:c.2191A>T	XP_011540537.1:p.Lys731Ter
XM_011542236.1:c.406A>T	XP_011540538.1:p.Lys136Ter
NM_031475.3:c.2281A>T MANE Select	NP_113663.2:p.Lys761Ter
XM_011542233.2:c.1822A>T	XP_011540535.1:p.Lys608Ter
XM_011542236.2:c.406A>T	XP_011540538.1:p.Lys136Ter
XM_017002433.1:c.2218A>T	XP_016857922.1:p.Lys740Ter
XM_024450116.1:c.2191A>T	XP_024305884.1:p.Lys731Ter
NM_001367473.1:c.2191A>T	NP_001354402.1:p.Lys731Ter
NM_001367474.1:c.2218A>T	NP_001354403.1:p.Lys740Ter