Canonical Allele Identifier: CA341764635
Gene: VANGL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115683977C>T , CM000663.2:g.115683977C>T GRCh38
NC_000001.10:g.116226598C>T , CM000663.1:g.116226598C>T GRCh37
NC_000001.9:g.116028121C>T NCBI36
NG_016548.1:g.47025C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355485.7:c.980C>T MANE Select ENSP00000347672.2:p.Ala327Val
ENST00000310260.7:c.980C>T ENSP00000310800.3:p.Ala327Val
ENST00000355485.6:c.980C>T ENSP00000347672.2:p.Ala327Val
ENST00000369509.1:c.980C>T ENSP00000358522.1:p.Ala327Val
ENST00000369510.8:c.974C>T ENSP00000358523.3:p.Ala325Val
ENST00000474344.1:n.362C>T
ENST00000478369.5:n.264C>T
NM_001172411.1:c.974C>T NP_001165882.1:p.Ala325Val
NM_001172412.1:c.980C>T NP_001165883.1:p.Ala327Val
NM_138959.2:c.980C>T NP_620409.1:p.Ala327Val
NM_138959.3:c.980C>T MANE Select NP_620409.1:p.Ala327Val
NM_001172411.2:c.974C>T NP_001165882.1:p.Ala325Val
NM_001172412.2:c.980C>T NP_001165883.1:p.Ala327Val