Canonical Allele Identifier: CA341764722

Gene: VANGL1

Linked Data

• gnomAD v4: 1-115684026-G-C
• MyVariant Identifiers: chr1:g.116226647G>C (hg19) ; chr1:g.115684026G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115684026G>C , CM000663.2:g.115684026G>C	GRCh38
NC_000001.10:g.116226647G>C , CM000663.1:g.116226647G>C	GRCh37
NC_000001.9:g.116028170G>C	NCBI36
NG_016548.1:g.47074G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355485.7:c.1029G>C MANE Select	ENSP00000347672.2:p.Leu343Phe
ENST00000310260.7:c.1029G>C	ENSP00000310800.3:p.Leu343Phe
ENST00000355485.6:c.1029G>C	ENSP00000347672.2:p.Leu343Phe
ENST00000369509.1:c.1029G>C	ENSP00000358522.1:p.Leu343Phe
ENST00000369510.8:c.1023G>C	ENSP00000358523.3:p.Leu341Phe
ENST00000474344.1:n.411G>C
ENST00000478369.5:n.313G>C
NM_001172411.1:c.1023G>C	NP_001165882.1:p.Leu341Phe
NM_001172412.1:c.1029G>C	NP_001165883.1:p.Leu343Phe
NM_138959.2:c.1029G>C	NP_620409.1:p.Leu343Phe
NM_138959.3:c.1029G>C MANE Select	NP_620409.1:p.Leu343Phe
NM_001172411.2:c.1023G>C	NP_001165882.1:p.Leu341Phe
NM_001172412.2:c.1029G>C	NP_001165883.1:p.Leu343Phe