Canonical Allele Identifier: CA4985545
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1054579
ClinVar RCV Id: RCV001363104
dbSNP Id: rs370228098
ExAC: 9:12708123 C / A
gnomAD v2: 9-12708123-C-A
gnomAD v4: 9-12708123-C-A
MyVariant Identifiers: chr9:g.12708123C>A (hg19) chr9:g.12708123C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12708123C>A , CM000671.2:g.12708123C>A GRCh38
NC_000009.11:g.12708123C>A , CM000671.1:g.12708123C>A GRCh37
NC_000009.10:g.12698123C>A NCBI36
NG_011705.1:g.19738C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1388C>A (TYRP1) MANE Select ENSP00000373570.4:p.Thr463Asn
ENST00000381136.2:c.518C>A (TYRP1) ENSP00000370528.2:p.Thr173Asn
ENST00000381142.3:n.499-854C>A (TYRP1)
ENST00000388918.9:c.1388C>A (TYRP1) ENSP00000373570.4:p.Thr463Asn
ENST00000473504.1:n.453C>A (TYRP1)
NM_000550.2:c.1388C>A (TYRP1) NP_000541.1:p.Thr463Asn
NR_125775.1:n.317-7497G>T (LURAP1L-AS1)
XR_001746372.2:n.1372C>A (TYRP1)
NM_000550.3:c.1388C>A (TYRP1) MANE Select NP_000541.1:p.Thr463Asn
Search 100 bp 5'
Search 100 bp 3'