Canonical Allele Identifier: CA341764581

Gene: VANGL1

Linked Data

• dbSNP Id: rs1446621824
• gnomAD v2: 1-116226572-T-G
• gnomAD v4: 1-115683951-T-G
• MyVariant Identifiers: chr1:g.116226572T>G (hg19) ; chr1:g.115683951T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115683951T>G , CM000663.2:g.115683951T>G	GRCh38
NC_000001.10:g.116226572T>G , CM000663.1:g.116226572T>G	GRCh37
NC_000001.9:g.116028095T>G	NCBI36
NG_016548.1:g.46999T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355485.7:c.954T>G MANE Select	ENSP00000347672.2:p.Ser318Arg
ENST00000310260.7:c.954T>G	ENSP00000310800.3:p.Ser318Arg
ENST00000355485.6:c.954T>G	ENSP00000347672.2:p.Ser318Arg
ENST00000369509.1:c.954T>G	ENSP00000358522.1:p.Ser318Arg
ENST00000369510.8:c.948T>G	ENSP00000358523.3:p.Ser316Arg
ENST00000474344.1:n.336T>G
ENST00000478369.5:n.238T>G
NM_001172411.1:c.948T>G	NP_001165882.1:p.Ser316Arg
NM_001172412.1:c.954T>G	NP_001165883.1:p.Ser318Arg
NM_138959.2:c.954T>G	NP_620409.1:p.Ser318Arg
NM_138959.3:c.954T>G MANE Select	NP_620409.1:p.Ser318Arg
NM_001172411.2:c.948T>G	NP_001165882.1:p.Ser316Arg
NM_001172412.2:c.954T>G	NP_001165883.1:p.Ser318Arg