Canonical Allele Identifier: CA4985404
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1634272
ClinVar RCV Id: RCV002130610
dbSNP Id: rs761970281
ExAC: 9:12702359 T / C
gnomAD v2: 9-12702359-T-C
gnomAD v3: 9-12702359-T-C
gnomAD v4: 9-12702359-T-C
MyVariant Identifiers: chr9:g.12702359T>C (hg19) chr9:g.12702359T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12702359T>C , CM000671.2:g.12702359T>C GRCh38
NC_000009.11:g.12702359T>C , CM000671.1:g.12702359T>C GRCh37
NC_000009.10:g.12692359T>C NCBI36
NG_011705.1:g.13974T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1002T>C (TYRP1) MANE Select ENSP00000373570.4:p.Ala334=
ENST00000381136.2:c.132T>C (TYRP1) ENSP00000370528.2:p.Ala44=
ENST00000381142.3:n.239T>C (TYRP1)
ENST00000388918.9:c.1002T>C (TYRP1) ENSP00000373570.4:p.Ala334=
ENST00000470909.1:n.260T>C (TYRP1)
NM_000550.2:c.1002T>C (TYRP1) NP_000541.1:p.Ala334=
NR_125775.1:n.317-1733A>G (LURAP1L-AS1)
XR_001746372.2:n.986T>C (TYRP1)
NM_000550.3:c.1002T>C (TYRP1) MANE Select NP_000541.1:p.Ala334=
Search 100 bp 5'
Search 100 bp 3'