Canonical Allele Identifier: CA419892596

Gene: VANGL1

Linked Data

• dbSNP Id: rs968405545
• gnomAD v3: 1-115683978-C-A
• gnomAD v4: 1-115683978-C-A
• MyVariant Identifiers: chr1:g.116226599C>A (hg19) ; chr1:g.115683978C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115683978C>A , CM000663.2:g.115683978C>A	GRCh38
NC_000001.10:g.116226599C>A , CM000663.1:g.116226599C>A	GRCh37
NC_000001.9:g.116028122C>A	NCBI36
NG_016548.1:g.47026C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355485.7:c.981C>A MANE Select	ENSP00000347672.2:p.Ala327=
ENST00000310260.7:c.981C>A	ENSP00000310800.3:p.Ala327=
ENST00000355485.6:c.981C>A	ENSP00000347672.2:p.Ala327=
ENST00000369509.1:c.981C>A	ENSP00000358522.1:p.Ala327=
ENST00000369510.8:c.975C>A	ENSP00000358523.3:p.Ala325=
ENST00000474344.1:n.363C>A
ENST00000478369.5:n.265C>A
NM_001172411.1:c.975C>A	NP_001165882.1:p.Ala325=
NM_001172412.1:c.981C>A	NP_001165883.1:p.Ala327=
NM_138959.2:c.981C>A	NP_620409.1:p.Ala327=
NM_138959.3:c.981C>A MANE Select	NP_620409.1:p.Ala327=
NM_001172411.2:c.975C>A	NP_001165882.1:p.Ala325=
NM_001172412.2:c.981C>A	NP_001165883.1:p.Ala327=