Canonical Allele Identifier: CA372944005
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs754027576
gnomAD v2: 9-12708107-G-C
gnomAD v3: 9-12708107-G-C
gnomAD v4: 9-12708107-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12708107G>C , CM000671.2:g.12708107G>C GRCh38
NC_000009.11:g.12708107G>C , CM000671.1:g.12708107G>C GRCh37
NC_000009.10:g.12698107G>C NCBI36
NG_011705.1:g.19722G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1372G>C (TYRP1) MANE Select ENSP00000373570.4:p.Asp458His
ENST00000381136.2:c.502G>C (TYRP1) ENSP00000370528.2:p.Asp168His
ENST00000381142.3:n.499-870G>C (TYRP1)
ENST00000388918.9:c.1372G>C (TYRP1) ENSP00000373570.4:p.Asp458His
ENST00000473504.1:n.437G>C (TYRP1)
NM_000550.2:c.1372G>C (TYRP1) NP_000541.1:p.Asp458His
NR_125775.1:n.317-7481C>G (LURAP1L-AS1)
XR_001746372.2:n.1356G>C (TYRP1)
NM_000550.3:c.1372G>C (TYRP1) MANE Select NP_000541.1:p.Asp458His