Canonical Allele Identifier: CA560434

Gene: ESPN

Linked Data

• ClinVar Variation Id: 227360
• ClinVar RCV Id: RCV000223058 ; RCV003765368
• dbSNP Id: rs371034506
• ExAC: 1:6512084 C / T
• gnomAD v2: 1-6512084-C-T
• gnomAD v3: 1-6452024-C-T
• gnomAD v4: 1-6452024-C-T
• MyVariant Identifiers: chr1:g.6512084C>T (hg19) ; chr1:g.6512084_6512106delinsTGAGTGGAAGCGCCAGGTGATGG (hg19) ; chr1:g.6452024C>T (hg38) ; chr1:g.6452024_6452046delinsTGAGTGGAAGCGCCAGGTGATGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6452024C>T , CM000663.2:g.6452024C>T	GRCh38
NC_000001.10:g.6512084C>T , CM000663.1:g.6512084C>T	GRCh37
NC_000001.9:g.6434671C>T	NCBI36
NG_015866.1:g.32237C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434576.2:c.283C>T
ENST00000461727.6:c.555C>T	ENSP00000465308.1:p.Pro185=
ENST00000475228.6:c.321C>T	ENSP00000488721.2:p.Pro107=
ENST00000477679.2:c.308C>T
ENST00000636330.1:c.2253C>T	ENSP00000490186.1:p.Pro751=
ENST00000636644.1:c.378C>T	ENSP00000490230.1:p.Pro126=
ENST00000645284.1:c.2253C>T MANE Select	ENSP00000496593.1:p.Pro751=
ENST00000377828.5:c.2253C>T	ENSP00000367059.1:p.Pro751=
ENST00000416731.5:c.555C>T	ENSP00000399239.2:p.Pro185=
ENST00000434576.1:c.283C>T
ENST00000461727.5:c.555C>T	ENSP00000465308.1:p.Pro185=
ENST00000475228.5:c.318C>T	ENSP00000488721.1:p.Pro106=
ENST00000477679.1:n.308C>T
ENST00000633239.1:c.402C>T	ENSP00000488071.1:p.Pro134=
NM_031475.2:c.2253C>T	NP_113663.2:p.Pro751=
XM_005263501.2:c.2190C>T	XP_005263558.1:p.Pro730=
XM_011542231.1:c.2190C>T	XP_011540533.1:p.Pro730=
XM_011542232.1:c.2163C>T	XP_011540534.1:p.Pro721=
XM_011542233.1:c.1794C>T	XP_011540535.1:p.Pro598=
XM_011542234.1:c.1131C>T	XP_011540536.1:p.Pro377=
XM_011542235.1:c.2163C>T	XP_011540537.1:p.Pro721=
XM_011542236.1:c.378C>T	XP_011540538.1:p.Pro126=
NM_031475.3:c.2253C>T MANE Select	NP_113663.2:p.Pro751=
XM_011542233.2:c.1794C>T	XP_011540535.1:p.Pro598=
XM_011542236.2:c.378C>T	XP_011540538.1:p.Pro126=
XM_017002433.1:c.2190C>T	XP_016857922.1:p.Pro730=
XM_024450116.1:c.2163C>T	XP_024305884.1:p.Pro721=
NM_001367473.1:c.2163C>T	NP_001354402.1:p.Pro721=
NM_001367474.1:c.2190C>T	NP_001354403.1:p.Pro730=