Canonical Allele Identifier: CA29589399

Gene: VANGL1

Linked Data

• dbSNP Id: rs770462405
• gnomAD v4: 1-115683902-T-G
• MyVariant Identifiers: chr1:g.116226523T>G (hg19) ; chr1:g.115683902T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115683902T>G , CM000663.2:g.115683902T>G	GRCh38
NC_000001.10:g.116226523T>G , CM000663.1:g.116226523T>G	GRCh37
NC_000001.9:g.116028046T>G	NCBI36
NG_016548.1:g.46950T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355485.7:c.947-42T>G MANE Select	ENSP00000347672.2:n.947-42T>G
ENST00000310260.7:c.947-42T>G	ENSP00000310800.3:n.947-42T>G
ENST00000355485.6:c.947-42T>G	ENSP00000347672.2:n.947-42T>G
ENST00000369509.1:c.947-42T>G	ENSP00000358522.1:n.947-42T>G
ENST00000369510.8:c.941-42T>G	ENSP00000358523.3:n.941-42T>G
ENST00000474344.1:n.329-42T>G
ENST00000478369.5:n.231-42T>G
NM_001172411.1:c.941-42T>G	NP_001165882.1:n.941-42T>G
NM_001172412.1:c.947-42T>G	NP_001165883.1:n.947-42T>G
NM_138959.2:c.947-42T>G	NP_620409.1:n.947-42T>G
NM_138959.3:c.947-42T>G MANE Select	NP_620409.1:n.947-42T>G
NM_001172411.2:c.941-42T>G	NP_001165882.1:n.941-42T>G
NM_001172412.2:c.947-42T>G	NP_001165883.1:n.947-42T>G