Canonical Allele Identifier: CA1834024836
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1969424
ClinVar RCV Id: RCV002760137
dbSNP Id: rs1818289101

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12708072dup , CM000671.2:g.12708072dup GRCh38
NC_000009.11:g.12708072dup , CM000671.1:g.12708072dup GRCh37
NC_000009.10:g.12698072dup NCBI36
NG_011705.1:g.19687dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1337dup (TYRP1) MANE Select ENSP00000373570.4:p.Val447SerfsTer19
ENST00000381136.2:c.467dup (TYRP1) ENSP00000370528.2:p.Val157SerfsTer19
ENST00000381142.3:n.499-905dup (TYRP1)
ENST00000388918.9:c.1337dup (TYRP1) ENSP00000373570.4:p.Val447SerfsTer19
ENST00000473504.1:n.402dup (TYRP1)
NM_000550.2:c.1337dup (TYRP1) NP_000541.1:p.Val447SerfsTer19
NR_125775.1:n.317-7442dup (LURAP1L-AS1)
XR_001746372.2:n.1321dup (TYRP1)
NM_000550.3:c.1337dup (TYRP1) MANE Select NP_000541.1:p.Val447SerfsTer19