Canonical Allele Identifier: CA1023414
Gene: VANGL1 HGNC NCBI

Linked Data

dbSNP Id: rs750736791

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115684028A>G , CM000663.2:g.115684028A>G GRCh38
NC_000001.10:g.116226649A>G , CM000663.1:g.116226649A>G GRCh37
NC_000001.9:g.116028172A>G NCBI36
NG_016548.1:g.47076A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355485.7:c.1031A>G MANE Select ENSP00000347672.2:p.Tyr344Cys
ENST00000310260.7:c.1031A>G ENSP00000310800.3:p.Tyr344Cys
ENST00000355485.6:c.1031A>G ENSP00000347672.2:p.Tyr344Cys
ENST00000369509.1:c.1031A>G ENSP00000358522.1:p.Tyr344Cys
ENST00000369510.8:c.1025A>G ENSP00000358523.3:p.Tyr342Cys
ENST00000474344.1:n.413A>G
ENST00000478369.5:n.315A>G
NM_001172411.1:c.1025A>G NP_001165882.1:p.Tyr342Cys
NM_001172412.1:c.1031A>G NP_001165883.1:p.Tyr344Cys
NM_138959.2:c.1031A>G NP_620409.1:p.Tyr344Cys
NM_138959.3:c.1031A>G MANE Select NP_620409.1:p.Tyr344Cys
NM_001172411.2:c.1025A>G NP_001165882.1:p.Tyr342Cys
NM_001172412.2:c.1031A>G NP_001165883.1:p.Tyr344Cys