Canonical Allele Identifier: CA4985550
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs373409941
gnomAD v2: 9-12708128-G-A
gnomAD v4: 9-12708128-G-A
COSMIC: COSM752734

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12708128G>A , CM000671.2:g.12708128G>A GRCh38
NC_000009.11:g.12708128G>A , CM000671.1:g.12708128G>A GRCh37
NC_000009.10:g.12698128G>A NCBI36
NG_011705.1:g.19743G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1393G>A (TYRP1) MANE Select ENSP00000373570.4:p.Glu465Lys
ENST00000381136.2:c.523G>A (TYRP1) ENSP00000370528.2:p.Glu175Lys
ENST00000381142.3:n.499-849G>A (TYRP1)
ENST00000388918.9:c.1393G>A (TYRP1) ENSP00000373570.4:p.Glu465Lys
ENST00000473504.1:n.458G>A (TYRP1)
NM_000550.2:c.1393G>A (TYRP1) NP_000541.1:p.Glu465Lys
NR_125775.1:n.317-7502C>T (LURAP1L-AS1)
XR_001746372.2:n.1377G>A (TYRP1)
NM_000550.3:c.1393G>A (TYRP1) MANE Select NP_000541.1:p.Glu465Lys