Canonical Allele Identifier: CA341764828
Gene: VANGL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116226698G>A (hg19) chr1:g.115684077G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115684077G>A , CM000663.2:g.115684077G>A GRCh38
NC_000001.10:g.116226698G>A , CM000663.1:g.116226698G>A GRCh37
NC_000001.9:g.116028221G>A NCBI36
NG_016548.1:g.47125G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355485.7:c.1079+1G>A MANE Select ENSP00000347672.2:n.1079+1G>A
ENST00000310260.7:c.1079+1G>A ENSP00000310800.3:n.1079+1G>A
ENST00000355485.6:c.1079+1G>A ENSP00000347672.2:n.1079+1G>A
ENST00000369509.1:c.1079+1G>A ENSP00000358522.1:n.1079+1G>A
ENST00000369510.8:c.1073+1G>A ENSP00000358523.3:n.1073+1G>A
NM_001172411.1:c.1073+1G>A NP_001165882.1:n.1073+1G>A
NM_001172412.1:c.1079+1G>A NP_001165883.1:n.1079+1G>A
NM_138959.2:c.1079+1G>A NP_620409.1:n.1079+1G>A
NM_138959.3:c.1079+1G>A MANE Select NP_620409.1:n.1079+1G>A
NM_001172411.2:c.1073+1G>A NP_001165882.1:n.1073+1G>A
NM_001172412.2:c.1079+1G>A NP_001165883.1:n.1079+1G>A
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