Canonical Allele Identifier: CA29587767

Gene: VANGL1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115682418C>A , CM000663.2:g.115682418C>A	GRCh38
NC_000001.10:g.116225039C>A , CM000663.1:g.116225039C>A	GRCh37
NC_000001.9:g.116026562C>A	NCBI36
NG_016548.1:g.45466C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138959.3:c.867C>A MANE Select	NP_620409.1:p.Ile289=
ENST00000355485.7:c.867C>A MANE Select	ENSP00000347672.2:p.Ile289=
NM_001172411.1:c.861C>A	NP_001165882.1:p.Ile287=
NM_001172411.2:c.861C>A	NP_001165882.1:p.Ile287=
NM_001172412.1:c.867C>A	NP_001165883.1:p.Ile289=
NM_001172412.2:c.867C>A	NP_001165883.1:p.Ile289=
NM_138959.2:c.867C>A	NP_620409.1:p.Ile289=
ENST00000310260.7:c.867C>A	ENSP00000310800.3:p.Ile289=
ENST00000355485.6:c.867C>A	ENSP00000347672.2:p.Ile289=
ENST00000369509.1:c.867C>A	ENSP00000358522.1:p.Ile289=
ENST00000369510.8:c.861C>A	ENSP00000358523.3:p.Ile287=
ENST00000474344.1:n.249C>A
ENST00000478369.5:n.151C>A