Canonical Allele Identifier: CA372943795
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1218773334
gnomAD v2: 9-12708027-C-G
gnomAD v4: 9-12708027-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12708027C>G , CM000671.2:g.12708027C>G GRCh38
NC_000009.11:g.12708027C>G , CM000671.1:g.12708027C>G GRCh37
NC_000009.10:g.12698027C>G NCBI36
NG_011705.1:g.19642C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1292C>G (TYRP1) MANE Select ENSP00000373570.4:p.Pro431Arg
ENST00000381136.2:c.422C>G (TYRP1) ENSP00000370528.2:p.Pro141Arg
ENST00000381142.3:n.499-950C>G (TYRP1)
ENST00000388918.9:c.1292C>G (TYRP1) ENSP00000373570.4:p.Pro431Arg
ENST00000473504.1:n.357C>G (TYRP1)
NM_000550.2:c.1292C>G (TYRP1) NP_000541.1:p.Pro431Arg
NR_125775.1:n.317-7401G>C (LURAP1L-AS1)
XR_001746372.2:n.1276C>G (TYRP1)
NM_000550.3:c.1292C>G (TYRP1) MANE Select NP_000541.1:p.Pro431Arg