Canonical Allele Identifier: CA338099998

Gene: ESPN

Linked Data

• MyVariant Identifiers: chr1:g.6512103A>T (hg19) ; chr1:g.6452043A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6452043A>T , CM000663.2:g.6452043A>T	GRCh38
NC_000001.10:g.6512103A>T , CM000663.1:g.6512103A>T	GRCh37
NC_000001.9:g.6434690A>T	NCBI36
NG_015866.1:g.32256A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434576.2:c.302A>T
ENST00000461727.6:c.574A>T	ENSP00000465308.1:p.Met192Leu
ENST00000475228.6:c.340A>T	ENSP00000488721.2:p.Met114Leu
ENST00000477679.2:c.327A>T
ENST00000636330.1:c.2272A>T	ENSP00000490186.1:p.Met758Leu
ENST00000636644.1:c.397A>T	ENSP00000490230.1:p.Met133Leu
ENST00000645284.1:c.2272A>T MANE Select	ENSP00000496593.1:p.Met758Leu
ENST00000377828.5:c.2272A>T	ENSP00000367059.1:p.Met758Leu
ENST00000416731.5:c.574A>T	ENSP00000399239.2:p.Met192Leu
ENST00000434576.1:c.302A>T
ENST00000461727.5:c.574A>T	ENSP00000465308.1:p.Met192Leu
ENST00000475228.5:c.337A>T	ENSP00000488721.1:p.Met113Leu
ENST00000477679.1:n.327A>T
ENST00000633239.1:c.421A>T	ENSP00000488071.1:p.Met141Leu
NM_031475.2:c.2272A>T	NP_113663.2:p.Met758Leu
XM_005263501.2:c.2209A>T	XP_005263558.1:p.Met737Leu
XM_011542231.1:c.2209A>T	XP_011540533.1:p.Met737Leu
XM_011542232.1:c.2182A>T	XP_011540534.1:p.Met728Leu
XM_011542233.1:c.1813A>T	XP_011540535.1:p.Met605Leu
XM_011542234.1:c.1150A>T	XP_011540536.1:p.Met384Leu
XM_011542235.1:c.2182A>T	XP_011540537.1:p.Met728Leu
XM_011542236.1:c.397A>T	XP_011540538.1:p.Met133Leu
NM_031475.3:c.2272A>T MANE Select	NP_113663.2:p.Met758Leu
XM_011542233.2:c.1813A>T	XP_011540535.1:p.Met605Leu
XM_011542236.2:c.397A>T	XP_011540538.1:p.Met133Leu
XM_017002433.1:c.2209A>T	XP_016857922.1:p.Met737Leu
XM_024450116.1:c.2182A>T	XP_024305884.1:p.Met728Leu
NM_001367473.1:c.2182A>T	NP_001354402.1:p.Met728Leu
NM_001367474.1:c.2209A>T	NP_001354403.1:p.Met737Leu