Canonical Allele Identifier: CA338099664

Gene: ESPN

Linked Data

• gnomAD v4: 1-6451993-C-T
• MyVariant Identifiers: chr1:g.6512053C>T (hg19) ; chr1:g.6451993C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6451993C>T , CM000663.2:g.6451993C>T	GRCh38
NC_000001.10:g.6512053C>T , CM000663.1:g.6512053C>T	GRCh37
NC_000001.9:g.6434640C>T	NCBI36
NG_015866.1:g.32206C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434576.2:c.252C>T
ENST00000461727.6:c.524C>T	ENSP00000465308.1:p.Pro175Leu
ENST00000475228.6:c.290C>T	ENSP00000488721.2:p.Pro97Leu
ENST00000477679.2:c.277C>T
ENST00000636330.1:c.2222C>T	ENSP00000490186.1:p.Pro741Leu
ENST00000636644.1:c.347C>T	ENSP00000490230.1:p.Pro116Leu
ENST00000645284.1:c.2222C>T MANE Select	ENSP00000496593.1:p.Pro741Leu
ENST00000377828.5:c.2222C>T	ENSP00000367059.1:p.Pro741Leu
ENST00000416731.5:c.524C>T	ENSP00000399239.2:p.Pro175Leu
ENST00000434576.1:c.252C>T
ENST00000461727.5:c.524C>T	ENSP00000465308.1:p.Pro175Leu
ENST00000475228.5:c.287C>T	ENSP00000488721.1:p.Pro96Leu
ENST00000477679.1:n.277C>T
ENST00000633239.1:c.371C>T	ENSP00000488071.1:p.Pro124Leu
NM_031475.2:c.2222C>T	NP_113663.2:p.Pro741Leu
XM_005263501.2:c.2159C>T	XP_005263558.1:p.Pro720Leu
XM_011542231.1:c.2159C>T	XP_011540533.1:p.Pro720Leu
XM_011542232.1:c.2132C>T	XP_011540534.1:p.Pro711Leu
XM_011542233.1:c.1763C>T	XP_011540535.1:p.Pro588Leu
XM_011542234.1:c.1100C>T	XP_011540536.1:p.Pro367Leu
XM_011542235.1:c.2132C>T	XP_011540537.1:p.Pro711Leu
XM_011542236.1:c.347C>T	XP_011540538.1:p.Pro116Leu
NM_031475.3:c.2222C>T MANE Select	NP_113663.2:p.Pro741Leu
XM_011542233.2:c.1763C>T	XP_011540535.1:p.Pro588Leu
XM_011542236.2:c.347C>T	XP_011540538.1:p.Pro116Leu
XM_017002433.1:c.2159C>T	XP_016857922.1:p.Pro720Leu
XM_024450116.1:c.2132C>T	XP_024305884.1:p.Pro711Leu
NM_001367473.1:c.2132C>T	NP_001354402.1:p.Pro711Leu
NM_001367474.1:c.2159C>T	NP_001354403.1:p.Pro720Leu