Canonical Allele Identifier: CA341764603

Gene: VANGL1

Linked Data

• COSMIC: COSM4021003
• MyVariant Identifiers: chr1:g.116226580C>T (hg19) ; chr1:g.115683959C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115683959C>T , CM000663.2:g.115683959C>T	GRCh38
NC_000001.10:g.116226580C>T , CM000663.1:g.116226580C>T	GRCh37
NC_000001.9:g.116028103C>T	NCBI36
NG_016548.1:g.47007C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355485.7:c.962C>T MANE Select	ENSP00000347672.2:p.Ala321Val
ENST00000310260.7:c.962C>T	ENSP00000310800.3:p.Ala321Val
ENST00000355485.6:c.962C>T	ENSP00000347672.2:p.Ala321Val
ENST00000369509.1:c.962C>T	ENSP00000358522.1:p.Ala321Val
ENST00000369510.8:c.956C>T	ENSP00000358523.3:p.Ala319Val
ENST00000474344.1:n.344C>T
ENST00000478369.5:n.246C>T
NM_001172411.1:c.956C>T	NP_001165882.1:p.Ala319Val
NM_001172412.1:c.962C>T	NP_001165883.1:p.Ala321Val
NM_138959.2:c.962C>T	NP_620409.1:p.Ala321Val
NM_138959.3:c.962C>T MANE Select	NP_620409.1:p.Ala321Val
NM_001172411.2:c.956C>T	NP_001165882.1:p.Ala319Val
NM_001172412.2:c.962C>T	NP_001165883.1:p.Ala321Val