Canonical Allele Identifier: CA4985494
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1946030
ClinVar RCV Id: RCV002667511
dbSNP Id: rs2733832
gnomAD v2: 9-12704725-C-G
gnomAD v4: 9-12704725-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12704725C>G , CM000671.2:g.12704725C>G GRCh38
NC_000009.11:g.12704725C>G , CM000671.1:g.12704725C>G GRCh37
NC_000009.10:g.12694725C>G NCBI36
NG_011705.1:g.16340C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000388918.10:c.1261+20C>G (TYRP1) MANE Select ENSP00000373570.4:n.1261+20C>G
ENST00000381136.2:c.391+20C>G (TYRP1) ENSP00000370528.2:n.391+20C>G
ENST00000381142.3:n.498+20C>G (TYRP1)
ENST00000388918.9:c.1261+20C>G (TYRP1) ENSP00000373570.4:n.1261+20C>G
NM_000550.2:c.1261+20C>G (TYRP1) NP_000541.1:n.1261+20C>G
NR_125775.1:n.317-4099G>C (LURAP1L-AS1)
XR_001746372.2:n.1245+20C>G (TYRP1)
NM_000550.3:c.1261+20C>G (TYRP1) MANE Select NP_000541.1:n.1261+20C>G