Canonical Allele Identifier: CA1121430296
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1818232239
gnomAD v3: 9-12704799-A-C
gnomAD v4: 9-12704799-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12704799A>C , CM000671.2:g.12704799A>C GRCh38
NC_000009.11:g.12704799A>C , CM000671.1:g.12704799A>C GRCh37
NC_000009.10:g.12694799A>C NCBI36
NG_011705.1:g.16414A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1261+94A>C (TYRP1) MANE Select ENSP00000373570.4:n.1261+94A>C
ENST00000381136.2:c.391+94A>C (TYRP1) ENSP00000370528.2:n.391+94A>C
ENST00000381142.3:n.498+94A>C (TYRP1)
ENST00000388918.9:c.1261+94A>C (TYRP1) ENSP00000373570.4:n.1261+94A>C
NM_000550.2:c.1261+94A>C (TYRP1) NP_000541.1:n.1261+94A>C
NR_125775.1:n.317-4173T>G (LURAP1L-AS1)
XR_001746372.2:n.1245+94A>C (TYRP1)
NM_000550.3:c.1261+94A>C (TYRP1) MANE Select NP_000541.1:n.1261+94A>C