Canonical Allele Identifier: CA419892610

Gene: VANGL1

Linked Data

• gnomAD v4: 1-115683996-T-G
• MyVariant Identifiers: chr1:g.116226617T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115683996T>G , CM000663.2:g.115683996T>G	GRCh38
NC_000001.10:g.116226617T>G , CM000663.1:g.116226617T>G	GRCh37
NC_000001.9:g.116028140T>G	NCBI36
NG_016548.1:g.47044T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355485.7:c.999T>G MANE Select	ENSP00000347672.2:p.Ala333=
ENST00000310260.7:c.999T>G	ENSP00000310800.3:p.Ala333=
ENST00000355485.6:c.999T>G	ENSP00000347672.2:p.Ala333=
ENST00000369509.1:c.999T>G	ENSP00000358522.1:p.Ala333=
ENST00000369510.8:c.993T>G	ENSP00000358523.3:p.Ala331=
ENST00000474344.1:n.381T>G
ENST00000478369.5:n.283T>G
NM_001172411.1:c.993T>G	NP_001165882.1:p.Ala331=
NM_001172412.1:c.999T>G	NP_001165883.1:p.Ala333=
NM_138959.2:c.999T>G	NP_620409.1:p.Ala333=
NM_138959.3:c.999T>G MANE Select	NP_620409.1:p.Ala333=
NM_001172411.2:c.993T>G	NP_001165882.1:p.Ala331=
NM_001172412.2:c.999T>G	NP_001165883.1:p.Ala333=