Canonical Allele Identifier: CA189312015
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs113146199
gnomAD v2: 9-12702385-A-G
gnomAD v4: 9-12702385-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12702385A>G , CM000671.2:g.12702385A>G GRCh38
NC_000009.11:g.12702385A>G , CM000671.1:g.12702385A>G GRCh37
NC_000009.10:g.12692385A>G NCBI36
NG_011705.1:g.14000A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1028A>G (TYRP1) MANE Select ENSP00000373570.4:p.Asp343Gly
ENST00000381136.2:c.158A>G (TYRP1) ENSP00000370528.2:p.Asp53Gly
ENST00000381142.3:n.265A>G (TYRP1)
ENST00000388918.9:c.1028A>G (TYRP1) ENSP00000373570.4:p.Asp343Gly
ENST00000470909.1:n.286A>G (TYRP1)
NM_000550.2:c.1028A>G (TYRP1) NP_000541.1:p.Asp343Gly
NR_125775.1:n.317-1759T>C (LURAP1L-AS1)
XR_001746372.2:n.1012A>G (TYRP1)
NM_000550.3:c.1028A>G (TYRP1) MANE Select NP_000541.1:p.Asp343Gly