Canonical Allele Identifier: CA4985523
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs779001026
gnomAD v2: 9-12708047-T-C
gnomAD v4: 9-12708047-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12708047T>C , CM000671.2:g.12708047T>C GRCh38
NC_000009.11:g.12708047T>C , CM000671.1:g.12708047T>C GRCh37
NC_000009.10:g.12698047T>C NCBI36
NG_011705.1:g.19662T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1312T>C (TYRP1) MANE Select ENSP00000373570.4:p.Tyr438His
ENST00000381136.2:c.442T>C (TYRP1) ENSP00000370528.2:p.Tyr148His
ENST00000381142.3:n.499-930T>C (TYRP1)
ENST00000388918.9:c.1312T>C (TYRP1) ENSP00000373570.4:p.Tyr438His
ENST00000473504.1:n.377T>C (TYRP1)
NM_000550.2:c.1312T>C (TYRP1) NP_000541.1:p.Tyr438His
NR_125775.1:n.317-7421A>G (LURAP1L-AS1)
XR_001746372.2:n.1296T>C (TYRP1)
NM_000550.3:c.1312T>C (TYRP1) MANE Select NP_000541.1:p.Tyr438His