Canonical Allele Identifier: CA4985527
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs747388935
gnomAD v2: 9-12708062-T-A
gnomAD v4: 9-12708062-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12708062T>A , CM000671.2:g.12708062T>A GRCh38
NC_000009.11:g.12708062T>A , CM000671.1:g.12708062T>A GRCh37
NC_000009.10:g.12698062T>A NCBI36
NG_011705.1:g.19677T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1327T>A (TYRP1) MANE Select ENSP00000373570.4:p.Phe443Ile
ENST00000381136.2:c.457T>A (TYRP1) ENSP00000370528.2:p.Phe153Ile
ENST00000381142.3:n.499-915T>A (TYRP1)
ENST00000388918.9:c.1327T>A (TYRP1) ENSP00000373570.4:p.Phe443Ile
ENST00000473504.1:n.392T>A (TYRP1)
NM_000550.2:c.1327T>A (TYRP1) NP_000541.1:p.Phe443Ile
NR_125775.1:n.317-7436A>T (LURAP1L-AS1)
XR_001746372.2:n.1311T>A (TYRP1)
NM_000550.3:c.1327T>A (TYRP1) MANE Select NP_000541.1:p.Phe443Ile