Canonical Allele Identifier: CA463860348
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1996785
ClinVar RCV Id: RCV002807016
dbSNP Id: rs1818229226
gnomAD v4: 9-12704650-C-T
MyVariant Identifiers: chr9:g.12704650C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12704650C>T , CM000671.2:g.12704650C>T GRCh38
NC_000009.11:g.12704650C>T , CM000671.1:g.12704650C>T GRCh37
NC_000009.10:g.12694650C>T NCBI36
NG_011705.1:g.16265C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1206C>T (TYRP1) MANE Select ENSP00000373570.4:p.Leu402=
ENST00000381136.2:c.336C>T (TYRP1) ENSP00000370528.2:p.Leu112=
ENST00000381142.3:n.443C>T (TYRP1)
ENST00000388918.9:c.1206C>T (TYRP1) ENSP00000373570.4:p.Leu402=
NM_000550.2:c.1206C>T (TYRP1) NP_000541.1:p.Leu402=
NR_125775.1:n.317-4024G>A (LURAP1L-AS1)
XR_001746372.2:n.1190C>T (TYRP1)
NM_000550.3:c.1206C>T (TYRP1) MANE Select NP_000541.1:p.Leu402=
Search 100 bp 5'
Search 100 bp 3'