Canonical Allele Identifier: CA4985543
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs765272929
gnomAD v2: 9-12708117-G-A
gnomAD v4: 9-12708117-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12708117G>A , CM000671.2:g.12708117G>A GRCh38
NC_000009.11:g.12708117G>A , CM000671.1:g.12708117G>A GRCh37
NC_000009.10:g.12698117G>A NCBI36
NG_011705.1:g.19732G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1382G>A (TYRP1) MANE Select ENSP00000373570.4:p.Gly461Glu
ENST00000381136.2:c.512G>A (TYRP1) ENSP00000370528.2:p.Gly171Glu
ENST00000381142.3:n.499-860G>A (TYRP1)
ENST00000388918.9:c.1382G>A (TYRP1) ENSP00000373570.4:p.Gly461Glu
ENST00000473504.1:n.447G>A (TYRP1)
NM_000550.2:c.1382G>A (TYRP1) NP_000541.1:p.Gly461Glu
NR_125775.1:n.317-7491C>T (LURAP1L-AS1)
XR_001746372.2:n.1366G>A (TYRP1)
NM_000550.3:c.1382G>A (TYRP1) MANE Select NP_000541.1:p.Gly461Glu