Canonical Allele Identifier: CA1023296

Gene: VANGL1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115664137G>A , CM000663.2:g.115664137G>A	GRCh38
NC_000001.10:g.116206758G>A , CM000663.1:g.116206758G>A	GRCh37
NC_000001.9:g.116008281G>A	NCBI36
NG_016548.1:g.27185G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138959.3:c.681G>A MANE Select	NP_620409.1:p.Val227=
ENST00000355485.7:c.681G>A MANE Select	ENSP00000347672.2:p.Val227=
NM_001172411.1:c.675G>A	NP_001165882.1:p.Val225=
NM_001172411.2:c.675G>A	NP_001165882.1:p.Val225=
NM_001172412.1:c.681G>A	NP_001165883.1:p.Val227=
NM_001172412.2:c.681G>A	NP_001165883.1:p.Val227=
NM_138959.2:c.681G>A	NP_620409.1:p.Val227=
ENST00000310260.7:c.681G>A	ENSP00000310800.3:p.Val227=
ENST00000355485.6:c.681G>A	ENSP00000347672.2:p.Val227=
ENST00000369509.1:c.681G>A	ENSP00000358522.1:p.Val227=
ENST00000369510.8:c.675G>A	ENSP00000358523.3:p.Val225=