Canonical Allele Identifier: CA341764621

Gene: VANGL1

Linked Data

• MyVariant Identifiers: chr1:g.116226590G>C (hg19) ; chr1:g.115683969G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115683969G>C , CM000663.2:g.115683969G>C	GRCh38
NC_000001.10:g.116226590G>C , CM000663.1:g.116226590G>C	GRCh37
NC_000001.9:g.116028113G>C	NCBI36
NG_016548.1:g.47017G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355485.7:c.972G>C MANE Select	ENSP00000347672.2:p.Gln324His
ENST00000310260.7:c.972G>C	ENSP00000310800.3:p.Gln324His
ENST00000355485.6:c.972G>C	ENSP00000347672.2:p.Gln324His
ENST00000369509.1:c.972G>C	ENSP00000358522.1:p.Gln324His
ENST00000369510.8:c.966G>C	ENSP00000358523.3:p.Gln322His
ENST00000474344.1:n.354G>C
ENST00000478369.5:n.256G>C
NM_001172411.1:c.966G>C	NP_001165882.1:p.Gln322His
NM_001172412.1:c.972G>C	NP_001165883.1:p.Gln324His
NM_138959.2:c.972G>C	NP_620409.1:p.Gln324His
NM_138959.3:c.972G>C MANE Select	NP_620409.1:p.Gln324His
NM_001172411.2:c.966G>C	NP_001165882.1:p.Gln322His
NM_001172412.2:c.972G>C	NP_001165883.1:p.Gln324His