Canonical Allele Identifier: CA341764788
Gene: VANGL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115684057G>C , CM000663.2:g.115684057G>C GRCh38
NC_000001.10:g.116226678G>C , CM000663.1:g.116226678G>C GRCh37
NC_000001.9:g.116028201G>C NCBI36
NG_016548.1:g.47105G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355485.7:c.1060G>C MANE Select ENSP00000347672.2:p.Val354Leu
ENST00000310260.7:c.1060G>C ENSP00000310800.3:p.Val354Leu
ENST00000355485.6:c.1060G>C ENSP00000347672.2:p.Val354Leu
ENST00000369509.1:c.1060G>C ENSP00000358522.1:p.Val354Leu
ENST00000369510.8:c.1054G>C ENSP00000358523.3:p.Val352Leu
ENST00000474344.1:n.442G>C
ENST00000478369.5:n.344G>C
NM_001172411.1:c.1054G>C NP_001165882.1:p.Val352Leu
NM_001172412.1:c.1060G>C NP_001165883.1:p.Val354Leu
NM_138959.2:c.1060G>C NP_620409.1:p.Val354Leu
NM_138959.3:c.1060G>C MANE Select NP_620409.1:p.Val354Leu
NM_001172411.2:c.1054G>C NP_001165882.1:p.Val352Leu
NM_001172412.2:c.1060G>C NP_001165883.1:p.Val354Leu