Canonical Allele Identifier: CA176051

Gene: ESPN

Linked Data

• ClinVar Variation Id: 163412
• ClinVar RCV Id: RCV000150656 ; RCV000477776 ; RCV000885850
• dbSNP Id: rs115143295
• ExAC: 1:6504598 C / T
• gnomAD v2: 1-6504598-C-T
• gnomAD v3: 1-6444538-C-T
• gnomAD v4: 1-6444538-C-T
• MyVariant Identifiers: chr1:g.6504598C>T (hg19) ; chr1:g.6444538C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6444538C>T , CM000663.2:g.6444538C>T	GRCh38
NC_000001.10:g.6504598C>T , CM000663.1:g.6504598C>T	GRCh37
NC_000001.9:g.6427185C>T	NCBI36
NG_015866.1:g.24751C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636330.1:c.1048C>T	ENSP00000490186.1:p.Pro350Ser
ENST00000645284.1:c.1048C>T MANE Select	ENSP00000496593.1:p.Pro350Ser
ENST00000377828.5:c.1048C>T	ENSP00000367059.1:p.Pro350Ser
ENST00000418286.1:c.403C>T	ENSP00000401793.1:p.Pro135Ser
NM_031475.2:c.1048C>T	NP_113663.2:p.Pro350Ser
XM_005263501.2:c.1048C>T	XP_005263558.1:p.Pro350Ser
XM_011542231.1:c.1048C>T	XP_011540533.1:p.Pro350Ser
XM_011542232.1:c.1048C>T	XP_011540534.1:p.Pro350Ser
XM_011542233.1:c.652C>T	XP_011540535.1:p.Pro218Ser
XM_011542234.1:c.-12C>T	XP_011540536.1:n.-12C>T
XM_011542235.1:c.1048C>T	XP_011540537.1:p.Pro350Ser
XM_011542237.1:c.1048C>T	XP_011540539.1:p.Pro350Ser
XM_011542238.1:c.1048C>T	XP_011540540.1:p.Pro350Ser
XR_946774.1:n.1228C>T
XR_946775.1:n.1228C>T
NM_031475.3:c.1048C>T MANE Select	NP_113663.2:p.Pro350Ser
XM_011542233.2:c.652C>T	XP_011540535.1:p.Pro218Ser
XM_011542238.3:c.1048C>T	XP_011540540.1:p.Pro350Ser
XM_017002433.1:c.1048C>T	XP_016857922.1:p.Pro350Ser
XM_017002434.1:c.1048C>T	XP_016857923.1:p.Pro350Ser
XM_024450116.1:c.1048C>T	XP_024305884.1:p.Pro350Ser
NM_001367473.1:c.1048C>T	NP_001354402.1:p.Pro350Ser
NM_001367474.1:c.1048C>T	NP_001354403.1:p.Pro350Ser