Canonical Allele Identifier: CA2579301310
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2766098
ClinVar RCV Id: RCV003580125

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12702354_12702355del , CM000671.2:g.12702354_12702355del GRCh38
NC_000009.11:g.12702354_12702355del , CM000671.1:g.12702354_12702355del GRCh37
NC_000009.10:g.12692354_12692355del NCBI36
NG_011705.1:g.13969_13970del

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.997_998del (TYRP1) MANE Select ENSP00000373570.4:p.Val333ArgfsTer10
ENST00000381136.2:c.127_128del (TYRP1) ENSP00000370528.2:p.Val43ArgfsTer10
ENST00000381142.3:n.234_235del (TYRP1)
ENST00000388918.9:c.997_998del (TYRP1) ENSP00000373570.4:p.Val333ArgfsTer10
ENST00000470909.1:n.255_256del (TYRP1)
NM_000550.2:c.997_998del (TYRP1) NP_000541.1:p.Val333ArgfsTer10
NR_125775.1:n.317-1728_317-1727del (LURAP1L-AS1)
XR_001746372.2:n.981_982del (TYRP1)
NM_000550.3:c.997_998del (TYRP1) MANE Select NP_000541.1:p.Val333ArgfsTer10