Canonical Allele Identifier: CA4985459
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs778524156
gnomAD v2: 9-12704570-C-G
gnomAD v3: 9-12704570-C-G
gnomAD v4: 9-12704570-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12704570C>G , CM000671.2:g.12704570C>G GRCh38
NC_000009.11:g.12704570C>G , CM000671.1:g.12704570C>G GRCh37
NC_000009.10:g.12694570C>G NCBI36
NG_011705.1:g.16185C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1126C>G (TYRP1) MANE Select ENSP00000373570.4:p.Leu376Val
ENST00000381136.2:c.256C>G (TYRP1) ENSP00000370528.2:p.Leu86Val
ENST00000381142.3:n.363C>G (TYRP1)
ENST00000388918.9:c.1126C>G (TYRP1) ENSP00000373570.4:p.Leu376Val
NM_000550.2:c.1126C>G (TYRP1) NP_000541.1:p.Leu376Val
NR_125775.1:n.317-3944G>C (LURAP1L-AS1)
XR_001746372.2:n.1110C>G (TYRP1)
NM_000550.3:c.1126C>G (TYRP1) MANE Select NP_000541.1:p.Leu376Val