Canonical Allele Identifier: CA1023387

Gene: VANGL1

Linked Data

• dbSNP Id: rs761419229
• ExAC: 1:116226593 C / T
• gnomAD v2: 1-116226593-C-T
• gnomAD v3: 1-115683972-C-T
• gnomAD v4: 1-115683972-C-T
• MyVariant Identifiers: chr1:g.116226593C>T (hg19) ; chr1:g.115683972C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115683972C>T , CM000663.2:g.115683972C>T	GRCh38
NC_000001.10:g.116226593C>T , CM000663.1:g.116226593C>T	GRCh37
NC_000001.9:g.116028116C>T	NCBI36
NG_016548.1:g.47020C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355485.7:c.975C>T MANE Select	ENSP00000347672.2:p.Ser325=
ENST00000310260.7:c.975C>T	ENSP00000310800.3:p.Ser325=
ENST00000355485.6:c.975C>T	ENSP00000347672.2:p.Ser325=
ENST00000369509.1:c.975C>T	ENSP00000358522.1:p.Ser325=
ENST00000369510.8:c.969C>T	ENSP00000358523.3:p.Ser323=
ENST00000474344.1:n.357C>T
ENST00000478369.5:n.259C>T
NM_001172411.1:c.969C>T	NP_001165882.1:p.Ser323=
NM_001172412.1:c.975C>T	NP_001165883.1:p.Ser325=
NM_138959.2:c.975C>T	NP_620409.1:p.Ser325=
NM_138959.3:c.975C>T MANE Select	NP_620409.1:p.Ser325=
NM_001172411.2:c.969C>T	NP_001165882.1:p.Ser323=
NM_001172412.2:c.975C>T	NP_001165883.1:p.Ser325=