Canonical Allele Identifier: CA4985382
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2152054
ClinVar RCV Id: RCV003061565 RCV003404058
dbSNP Id: rs770681012
ExAC: 9:12702276 G / A
gnomAD v2: 9-12702276-G-A
gnomAD v3: 9-12702276-G-A
gnomAD v4: 9-12702276-G-A
MyVariant Identifiers: chr9:g.12702276G>A (hg19) chr9:g.12702276G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12702276G>A , CM000671.2:g.12702276G>A GRCh38
NC_000009.11:g.12702276G>A , CM000671.1:g.12702276G>A GRCh37
NC_000009.10:g.12692276G>A NCBI36
NG_011705.1:g.13891G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.919G>A (TYRP1) MANE Select ENSP00000373570.4:p.Glu307Lys
ENST00000381136.2:c.49G>A (TYRP1) ENSP00000370528.2:p.Glu17Lys
ENST00000381142.3:n.156G>A (TYRP1)
ENST00000388918.9:c.919G>A (TYRP1) ENSP00000373570.4:p.Glu307Lys
ENST00000470909.1:n.177G>A (TYRP1)
NM_000550.2:c.919G>A (TYRP1) NP_000541.1:p.Glu307Lys
NR_125775.1:n.317-1650C>T (LURAP1L-AS1)
XR_001746372.2:n.903G>A (TYRP1)
NM_000550.3:c.919G>A (TYRP1) MANE Select NP_000541.1:p.Glu307Lys
Search 100 bp 5'
Search 100 bp 3'