Canonical Allele Identifier: CA463860220
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2874204
ClinVar RCV Id: RCV003712362
dbSNP Id: rs201296701
gnomAD v3: 9-12704521-T-C
gnomAD v4: 9-12704521-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12704521T>C , CM000671.2:g.12704521T>C GRCh38
NC_000009.11:g.12704521T>C , CM000671.1:g.12704521T>C GRCh37
NC_000009.10:g.12694521T>C NCBI36
NG_011705.1:g.16136T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1082-5T>C (TYRP1) MANE Select ENSP00000373570.4:n.1082-5T>C
ENST00000381136.2:c.212-5T>C (TYRP1) ENSP00000370528.2:n.212-5T>C
ENST00000381142.3:n.319-5T>C (TYRP1)
ENST00000388918.9:c.1082-5T>C (TYRP1) ENSP00000373570.4:n.1082-5T>C
NM_000550.2:c.1082-5T>C (TYRP1) NP_000541.1:n.1082-5T>C
NR_125775.1:n.317-3895A>G (LURAP1L-AS1)
XR_001746372.2:n.1066-5T>C (TYRP1)
NM_000550.3:c.1082-5T>C (TYRP1) MANE Select NP_000541.1:n.1082-5T>C