Canonical Allele Identifier: CA372941396
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2040831
ClinVar RCV Id: RCV002912736

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12702271G>T , CM000671.2:g.12702271G>T GRCh38
NC_000009.11:g.12702271G>T , CM000671.1:g.12702271G>T GRCh37
NC_000009.10:g.12692271G>T NCBI36
NG_011705.1:g.13886G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.914G>T (TYRP1) MANE Select ENSP00000373570.4:p.Ser305Ile
ENST00000381136.2:c.44G>T (TYRP1) ENSP00000370528.2:p.Gly15Val
ENST00000381142.3:n.151G>T (TYRP1)
ENST00000388918.9:c.914G>T (TYRP1) ENSP00000373570.4:p.Ser305Ile
ENST00000470909.1:n.172G>T (TYRP1)
NM_000550.2:c.914G>T (TYRP1) NP_000541.1:p.Ser305Ile
NR_125775.1:n.317-1645C>A (LURAP1L-AS1)
XR_001746372.2:n.898G>T (TYRP1)
NM_000550.3:c.914G>T (TYRP1) MANE Select NP_000541.1:p.Ser305Ile