Canonical Allele Identifier: CA1834022986
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1455304
ClinVar RCV Id: RCV001962992
dbSNP Id: rs1818230091

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12704697dup , CM000671.2:g.12704697dup GRCh38
NC_000009.11:g.12704697dup , CM000671.1:g.12704697dup GRCh37
NC_000009.10:g.12694697dup NCBI36
NG_011705.1:g.16312dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1253dup (TYRP1) MANE Select ENSP00000373570.4:p.Tyr418Ter
ENST00000381136.2:c.383dup (TYRP1) ENSP00000370528.2:p.Tyr128Ter
ENST00000381142.3:n.490dup (TYRP1)
ENST00000388918.9:c.1253dup (TYRP1) ENSP00000373570.4:p.Tyr418Ter
NM_000550.2:c.1253dup (TYRP1) NP_000541.1:p.Tyr418Ter
NR_125775.1:n.317-4071dup (LURAP1L-AS1)
XR_001746372.2:n.1237dup (TYRP1)
NM_000550.3:c.1253dup (TYRP1) MANE Select NP_000541.1:p.Tyr418Ter