Canonical Allele Identifier: CA4985480
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1949691
ClinVar RCV Id: RCV002676411
dbSNP Id: rs746050665
gnomAD v2: 9-12704685-G-A
gnomAD v4: 9-12704685-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12704685G>A , CM000671.2:g.12704685G>A GRCh38
NC_000009.11:g.12704685G>A , CM000671.1:g.12704685G>A GRCh37
NC_000009.10:g.12694685G>A NCBI36
NG_011705.1:g.16300G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1241G>A (TYRP1) MANE Select ENSP00000373570.4:p.Trp414Ter
ENST00000381136.2:c.371G>A (TYRP1) ENSP00000370528.2:p.Trp124Ter
ENST00000381142.3:n.478G>A (TYRP1)
ENST00000388918.9:c.1241G>A (TYRP1) ENSP00000373570.4:p.Trp414Ter
NM_000550.2:c.1241G>A (TYRP1) NP_000541.1:p.Trp414Ter
NR_125775.1:n.317-4059C>T (LURAP1L-AS1)
XR_001746372.2:n.1225G>A (TYRP1)
NM_000550.3:c.1241G>A (TYRP1) MANE Select NP_000541.1:p.Trp414Ter