Canonical Allele Identifier: CA372944020
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2550692
ClinVar RCV Id: RCV003242940

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12708113C>G , CM000671.2:g.12708113C>G GRCh38
NC_000009.11:g.12708113C>G , CM000671.1:g.12708113C>G GRCh37
NC_000009.10:g.12698113C>G NCBI36
NG_011705.1:g.19728C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1378C>G (TYRP1) MANE Select ENSP00000373570.4:p.Leu460Val
ENST00000381136.2:c.508C>G (TYRP1) ENSP00000370528.2:p.Leu170Val
ENST00000381142.3:n.499-864C>G (TYRP1)
ENST00000388918.9:c.1378C>G (TYRP1) ENSP00000373570.4:p.Leu460Val
ENST00000473504.1:n.443C>G (TYRP1)
NM_000550.2:c.1378C>G (TYRP1) NP_000541.1:p.Leu460Val
NR_125775.1:n.317-7487G>C (LURAP1L-AS1)
XR_001746372.2:n.1362C>G (TYRP1)
NM_000550.3:c.1378C>G (TYRP1) MANE Select NP_000541.1:p.Leu460Val