Canonical Allele Identifier: CA1023280

Gene: VANGL1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115664075C>T , CM000663.2:g.115664075C>T	GRCh38
NC_000001.10:g.116206696C>T , CM000663.1:g.116206696C>T	GRCh37
NC_000001.9:g.116008219C>T	NCBI36
NG_016548.1:g.27123C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_138959.3:c.619C>T MANE Select	NP_620409.1:p.Arg207Cys
ENST00000355485.7:c.619C>T MANE Select	ENSP00000347672.2:p.Arg207Cys
NM_001172411.1:c.613C>T	NP_001165882.1:p.Arg205Cys
NM_001172411.2:c.613C>T	NP_001165882.1:p.Arg205Cys
NM_001172412.1:c.619C>T	NP_001165883.1:p.Arg207Cys
NM_001172412.2:c.619C>T	NP_001165883.1:p.Arg207Cys
NM_138959.2:c.619C>T	NP_620409.1:p.Arg207Cys
ENST00000310260.7:c.619C>T	ENSP00000310800.3:p.Arg207Cys
ENST00000355485.6:c.619C>T	ENSP00000347672.2:p.Arg207Cys
ENST00000369509.1:c.619C>T	ENSP00000358522.1:p.Arg207Cys
ENST00000369510.8:c.613C>T	ENSP00000358523.3:p.Arg205Cys