Canonical Allele Identifier: CA1023349

Gene: VANGL1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115682419T>C , CM000663.2:g.115682419T>C	GRCh38
NC_000001.10:g.116225040T>C , CM000663.1:g.116225040T>C	GRCh37
NC_000001.9:g.116026563T>C	NCBI36
NG_016548.1:g.45467T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_138959.3:c.868T>C MANE Select	NP_620409.1:p.Tyr290His
ENST00000355485.7:c.868T>C MANE Select	ENSP00000347672.2:p.Tyr290His
NM_001172411.1:c.862T>C	NP_001165882.1:p.Tyr288His
NM_001172411.2:c.862T>C	NP_001165882.1:p.Tyr288His
NM_001172412.1:c.868T>C	NP_001165883.1:p.Tyr290His
NM_001172412.2:c.868T>C	NP_001165883.1:p.Tyr290His
NM_138959.2:c.868T>C	NP_620409.1:p.Tyr290His
ENST00000310260.7:c.868T>C	ENSP00000310800.3:p.Tyr290His
ENST00000355485.6:c.868T>C	ENSP00000347672.2:p.Tyr290His
ENST00000369509.1:c.868T>C	ENSP00000358522.1:p.Tyr290His
ENST00000369510.8:c.862T>C	ENSP00000358523.3:p.Tyr288His
ENST00000474344.1:n.250T>C
ENST00000478369.5:n.152T>C