Canonical Allele Identifier: CA586637149
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1323731
ClinVar RCV Id: RCV001785105
dbSNP Id: rs1563856255
gnomAD v2: 9-12704639-AT-A
gnomAD v4: 9-12704639-AT-A
MyVariant Identifiers: chr9:g.12704640del (hg19) chr9:g.12704640del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12704644del , CM000671.2:g.12704644del GRCh38
NC_000009.11:g.12704644del , CM000671.1:g.12704644del GRCh37
NC_000009.10:g.12694644del NCBI36
NG_011705.1:g.16259del

Transcript Alleles

HGVS Amino-acid change
ENST00000388918.10:c.1200del (TYRP1) MANE Select ENSP00000373570.4:p.Phe400LeufsTer16
ENST00000381136.2:c.330del (TYRP1) ENSP00000370528.2:p.Phe110LeufsTer16
ENST00000381142.3:n.437del (TYRP1)
ENST00000388918.9:c.1200del (TYRP1) ENSP00000373570.4:p.Phe400LeufsTer16
NM_000550.2:c.1200del (TYRP1) NP_000541.1:p.Phe400LeufsTer16
NR_125775.1:n.317-4014del (LURAP1L-AS1)
XR_001746372.2:n.1184del (TYRP1)
NM_000550.3:c.1200del (TYRP1) MANE Select NP_000541.1:p.Phe400LeufsTer16
Search 100 bp 5'
Search 100 bp 3'