Canonical Allele Identifier: CA341765104

Gene: VANGL1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115685414A>C , CM000663.2:g.115685414A>C	GRCh38
NC_000001.10:g.116228035A>C , CM000663.1:g.116228035A>C	GRCh37
NC_000001.9:g.116029558A>C	NCBI36
NG_016548.1:g.48462A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_138959.3:c.1201A>C MANE Select	NP_620409.1:p.Met401Leu
ENST00000355485.7:c.1201A>C MANE Select	ENSP00000347672.2:p.Met401Leu
NM_001172411.1:c.1195A>C	NP_001165882.1:p.Met399Leu
NM_001172411.2:c.1195A>C	NP_001165882.1:p.Met399Leu
NM_001172412.1:c.1201A>C	NP_001165883.1:p.Met401Leu
NM_001172412.2:c.1201A>C	NP_001165883.1:p.Met401Leu
NM_138959.2:c.1201A>C	NP_620409.1:p.Met401Leu
ENST00000310260.7:c.1201A>C	ENSP00000310800.3:p.Met401Leu
ENST00000355485.6:c.1201A>C	ENSP00000347672.2:p.Met401Leu
ENST00000369509.1:c.1201A>C	ENSP00000358522.1:p.Met401Leu
ENST00000369510.8:c.1195A>C	ENSP00000358523.3:p.Met399Leu