Canonical Allele Identifier: CA29589738

Gene: VANGL1

Linked Data

• dbSNP Id: rs958122808
• gnomAD v2: 1-116226644-G-A
• gnomAD v3: 1-115684023-G-A
• gnomAD v4: 1-115684023-G-A
• MyVariant Identifiers: chr1:g.116226644G>A (hg19) ; chr1:g.115684023G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115684023G>A , CM000663.2:g.115684023G>A	GRCh38
NC_000001.10:g.116226644G>A , CM000663.1:g.116226644G>A	GRCh37
NC_000001.9:g.116028167G>A	NCBI36
NG_016548.1:g.47071G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355485.7:c.1026G>A MANE Select	ENSP00000347672.2:p.Glu342=
ENST00000310260.7:c.1026G>A	ENSP00000310800.3:p.Glu342=
ENST00000355485.6:c.1026G>A	ENSP00000347672.2:p.Glu342=
ENST00000369509.1:c.1026G>A	ENSP00000358522.1:p.Glu342=
ENST00000369510.8:c.1020G>A	ENSP00000358523.3:p.Glu340=
ENST00000474344.1:n.408G>A
ENST00000478369.5:n.310G>A
NM_001172411.1:c.1020G>A	NP_001165882.1:p.Glu340=
NM_001172412.1:c.1026G>A	NP_001165883.1:p.Glu342=
NM_138959.2:c.1026G>A	NP_620409.1:p.Glu342=
NM_138959.3:c.1026G>A MANE Select	NP_620409.1:p.Glu342=
NM_001172411.2:c.1020G>A	NP_001165882.1:p.Glu340=
NM_001172412.2:c.1026G>A	NP_001165883.1:p.Glu342=