Canonical Allele Identifier: CA341764679
Gene: VANGL1 HGNC NCBI

Linked Data

dbSNP Id: rs1557775287

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115684006G>A , CM000663.2:g.115684006G>A GRCh38
NC_000001.10:g.116226627G>A , CM000663.1:g.116226627G>A GRCh37
NC_000001.9:g.116028150G>A NCBI36
NG_016548.1:g.47054G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355485.7:c.1009G>A MANE Select ENSP00000347672.2:p.Asp337Asn
ENST00000310260.7:c.1009G>A ENSP00000310800.3:p.Asp337Asn
ENST00000355485.6:c.1009G>A ENSP00000347672.2:p.Asp337Asn
ENST00000369509.1:c.1009G>A ENSP00000358522.1:p.Asp337Asn
ENST00000369510.8:c.1003G>A ENSP00000358523.3:p.Asp335Asn
ENST00000474344.1:n.391G>A
ENST00000478369.5:n.293G>A
NM_001172411.1:c.1003G>A NP_001165882.1:p.Asp335Asn
NM_001172412.1:c.1009G>A NP_001165883.1:p.Asp337Asn
NM_138959.2:c.1009G>A NP_620409.1:p.Asp337Asn
NM_138959.3:c.1009G>A MANE Select NP_620409.1:p.Asp337Asn
NM_001172411.2:c.1003G>A NP_001165882.1:p.Asp335Asn
NM_001172412.2:c.1009G>A NP_001165883.1:p.Asp337Asn