Canonical Allele Identifier: CA341764653

Gene: VANGL1

Linked Data

• gnomAD v4: 1-115683986-C-T
• MyVariant Identifiers: chr1:g.116226607C>T (hg19) ; chr1:g.115683986C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115683986C>T , CM000663.2:g.115683986C>T	GRCh38
NC_000001.10:g.116226607C>T , CM000663.1:g.116226607C>T	GRCh37
NC_000001.9:g.116028130C>T	NCBI36
NG_016548.1:g.47034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355485.7:c.989C>T MANE Select	ENSP00000347672.2:p.Ala330Val
ENST00000310260.7:c.989C>T	ENSP00000310800.3:p.Ala330Val
ENST00000355485.6:c.989C>T	ENSP00000347672.2:p.Ala330Val
ENST00000369509.1:c.989C>T	ENSP00000358522.1:p.Ala330Val
ENST00000369510.8:c.983C>T	ENSP00000358523.3:p.Ala328Val
ENST00000474344.1:n.371C>T
ENST00000478369.5:n.273C>T
NM_001172411.1:c.983C>T	NP_001165882.1:p.Ala328Val
NM_001172412.1:c.989C>T	NP_001165883.1:p.Ala330Val
NM_138959.2:c.989C>T	NP_620409.1:p.Ala330Val
NM_138959.3:c.989C>T MANE Select	NP_620409.1:p.Ala330Val
NM_001172411.2:c.983C>T	NP_001165882.1:p.Ala328Val
NM_001172412.2:c.989C>T	NP_001165883.1:p.Ala330Val