Canonical Allele Identifier: CA372941652
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1185312067
gnomAD v2: 9-12702342-G-A
gnomAD v3: 9-12702342-G-A
gnomAD v4: 9-12702342-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12702342G>A , CM000671.2:g.12702342G>A GRCh38
NC_000009.11:g.12702342G>A , CM000671.1:g.12702342G>A GRCh37
NC_000009.10:g.12692342G>A NCBI36
NG_011705.1:g.13957G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.985G>A (TYRP1) MANE Select ENSP00000373570.4:p.Glu329Lys
ENST00000381136.2:c.115G>A (TYRP1) ENSP00000370528.2:p.Glu39Lys
ENST00000381142.3:n.222G>A (TYRP1)
ENST00000388918.9:c.985G>A (TYRP1) ENSP00000373570.4:p.Glu329Lys
ENST00000470909.1:n.243G>A (TYRP1)
NM_000550.2:c.985G>A (TYRP1) NP_000541.1:p.Glu329Lys
NR_125775.1:n.317-1716C>T (LURAP1L-AS1)
XR_001746372.2:n.969G>A (TYRP1)
NM_000550.3:c.985G>A (TYRP1) MANE Select NP_000541.1:p.Glu329Lys