Canonical Allele Identifier: CA341763146

Gene: VANGL1

Linked Data

• dbSNP Id: rs201593132
• gnomAD v3: 1-115664082-T-G
• gnomAD v4: 1-115664082-T-G
• MyVariant Identifiers: chr1:g.116206703T>G (hg19) ; chr1:g.115664082T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115664082T>G , CM000663.2:g.115664082T>G	GRCh38
NC_000001.10:g.116206703T>G , CM000663.1:g.116206703T>G	GRCh37
NC_000001.9:g.116008226T>G	NCBI36
NG_016548.1:g.27130T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355485.7:c.626T>G MANE Select	ENSP00000347672.2:p.Leu209Trp
ENST00000310260.7:c.626T>G	ENSP00000310800.3:p.Leu209Trp
ENST00000355485.6:c.626T>G	ENSP00000347672.2:p.Leu209Trp
ENST00000369509.1:c.626T>G	ENSP00000358522.1:p.Leu209Trp
ENST00000369510.8:c.620T>G	ENSP00000358523.3:p.Leu207Trp
NM_001172411.1:c.620T>G	NP_001165882.1:p.Leu207Trp
NM_001172412.1:c.626T>G	NP_001165883.1:p.Leu209Trp
NM_138959.2:c.626T>G	NP_620409.1:p.Leu209Trp
NM_138959.3:c.626T>G MANE Select	NP_620409.1:p.Leu209Trp
NM_001172411.2:c.620T>G	NP_001165882.1:p.Leu207Trp
NM_001172412.2:c.626T>G	NP_001165883.1:p.Leu209Trp