Canonical Allele Identifier: CA1023460

Gene: VANGL1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115685340A>G , CM000663.2:g.115685340A>G	GRCh38
NC_000001.10:g.116227961A>G , CM000663.1:g.116227961A>G	GRCh37
NC_000001.9:g.116029484A>G	NCBI36
NG_016548.1:g.48388A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_138959.3:c.1127A>G MANE Select	NP_620409.1:p.Gln376Arg
ENST00000355485.7:c.1127A>G MANE Select	ENSP00000347672.2:p.Gln376Arg
NM_001172411.1:c.1121A>G	NP_001165882.1:p.Gln374Arg
NM_001172411.2:c.1121A>G	NP_001165882.1:p.Gln374Arg
NM_001172412.1:c.1127A>G	NP_001165883.1:p.Gln376Arg
NM_001172412.2:c.1127A>G	NP_001165883.1:p.Gln376Arg
NM_138959.2:c.1127A>G	NP_620409.1:p.Gln376Arg
ENST00000310260.7:c.1127A>G	ENSP00000310800.3:p.Gln376Arg
ENST00000355485.6:c.1127A>G	ENSP00000347672.2:p.Gln376Arg
ENST00000369509.1:c.1127A>G	ENSP00000358522.1:p.Gln376Arg
ENST00000369510.8:c.1121A>G	ENSP00000358523.3:p.Gln374Arg