Canonical Allele Identifier: CA189314128
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1989210
ClinVar RCV Id: RCV002786394
dbSNP Id: rs904987627
gnomAD v3: 9-12704641-T-A
gnomAD v4: 9-12704641-T-A
MyVariant Identifiers: chr9:g.12704641T>A (hg19) chr9:g.12704641T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12704641T>A , CM000671.2:g.12704641T>A GRCh38
NC_000009.11:g.12704641T>A , CM000671.1:g.12704641T>A GRCh37
NC_000009.10:g.12694641T>A NCBI36
NG_011705.1:g.16256T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1197T>A (TYRP1) MANE Select ENSP00000373570.4:p.Ile399=
ENST00000381136.2:c.327T>A (TYRP1) ENSP00000370528.2:p.Ile109=
ENST00000381142.3:n.434T>A (TYRP1)
ENST00000388918.9:c.1197T>A (TYRP1) ENSP00000373570.4:p.Ile399=
NM_000550.2:c.1197T>A (TYRP1) NP_000541.1:p.Ile399=
NR_125775.1:n.317-4015A>T (LURAP1L-AS1)
XR_001746372.2:n.1181T>A (TYRP1)
NM_000550.3:c.1197T>A (TYRP1) MANE Select NP_000541.1:p.Ile399=
Search 100 bp 5'
Search 100 bp 3'