Canonical Allele Identifier: CA4985380
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs773285733
gnomAD v2: 9-12702274-C-T
gnomAD v4: 9-12702274-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12702274C>T , CM000671.2:g.12702274C>T GRCh38
NC_000009.11:g.12702274C>T , CM000671.1:g.12702274C>T GRCh37
NC_000009.10:g.12692274C>T NCBI36
NG_011705.1:g.13889C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.917C>T (TYRP1) MANE Select ENSP00000373570.4:p.Thr306Ile
ENST00000381136.2:c.47C>T (TYRP1) ENSP00000370528.2:p.Thr16Ile
ENST00000381142.3:n.154C>T (TYRP1)
ENST00000388918.9:c.917C>T (TYRP1) ENSP00000373570.4:p.Thr306Ile
ENST00000470909.1:n.175C>T (TYRP1)
NM_000550.2:c.917C>T (TYRP1) NP_000541.1:p.Thr306Ile
NR_125775.1:n.317-1648G>A (LURAP1L-AS1)
XR_001746372.2:n.901C>T (TYRP1)
NM_000550.3:c.917C>T (TYRP1) MANE Select NP_000541.1:p.Thr306Ile