Canonical Allele Identifier: CA341764705
Gene: VANGL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115684018A>T , CM000663.2:g.115684018A>T GRCh38
NC_000001.10:g.116226639A>T , CM000663.1:g.116226639A>T GRCh37
NC_000001.9:g.116028162A>T NCBI36
NG_016548.1:g.47066A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355485.7:c.1021A>T MANE Select ENSP00000347672.2:p.Asn341Tyr
ENST00000310260.7:c.1021A>T ENSP00000310800.3:p.Asn341Tyr
ENST00000355485.6:c.1021A>T ENSP00000347672.2:p.Asn341Tyr
ENST00000369509.1:c.1021A>T ENSP00000358522.1:p.Asn341Tyr
ENST00000369510.8:c.1015A>T ENSP00000358523.3:p.Asn339Tyr
ENST00000474344.1:n.403A>T
ENST00000478369.5:n.305A>T
NM_001172411.1:c.1015A>T NP_001165882.1:p.Asn339Tyr
NM_001172412.1:c.1021A>T NP_001165883.1:p.Asn341Tyr
NM_138959.2:c.1021A>T NP_620409.1:p.Asn341Tyr
NM_138959.3:c.1021A>T MANE Select NP_620409.1:p.Asn341Tyr
NM_001172411.2:c.1015A>T NP_001165882.1:p.Asn339Tyr
NM_001172412.2:c.1021A>T NP_001165883.1:p.Asn341Tyr