Canonical Allele Identifier: CA29589387

Gene: VANGL1

Linked Data

• dbSNP Id: rs372403711
• gnomAD v4: 1-115683896-C-G
• MyVariant Identifiers: chr1:g.116226517C>G (hg19) ; chr1:g.115683896C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115683896C>G , CM000663.2:g.115683896C>G	GRCh38
NC_000001.10:g.116226517C>G , CM000663.1:g.116226517C>G	GRCh37
NC_000001.9:g.116028040C>G	NCBI36
NG_016548.1:g.46944C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355485.7:c.947-48C>G MANE Select	ENSP00000347672.2:n.947-48C>G
ENST00000310260.7:c.947-48C>G	ENSP00000310800.3:n.947-48C>G
ENST00000355485.6:c.947-48C>G	ENSP00000347672.2:n.947-48C>G
ENST00000369509.1:c.947-48C>G	ENSP00000358522.1:n.947-48C>G
ENST00000369510.8:c.941-48C>G	ENSP00000358523.3:n.941-48C>G
ENST00000474344.1:n.329-48C>G
ENST00000478369.5:n.231-48C>G
NM_001172411.1:c.941-48C>G	NP_001165882.1:n.941-48C>G
NM_001172412.1:c.947-48C>G	NP_001165883.1:n.947-48C>G
NM_138959.2:c.947-48C>G	NP_620409.1:n.947-48C>G
NM_138959.3:c.947-48C>G MANE Select	NP_620409.1:n.947-48C>G
NM_001172411.2:c.941-48C>G	NP_001165882.1:n.941-48C>G
NM_001172412.2:c.947-48C>G	NP_001165883.1:n.947-48C>G