Canonical Allele Identifier: CA127298
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17598
dbSNP Id: rs387906562
COSMIC: COSM166262

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12702414_12702417del , CM000671.2:g.12702414_12702417del GRCh38
NC_000009.11:g.12702414_12702417del , CM000671.1:g.12702414_12702417del GRCh37
NC_000009.10:g.12692414_12692417del NCBI36
NG_011705.1:g.14029_14032del

Transcript Alleles

HGVS Amino-acid change
ENST00000388918.10:c.1057_1060del (TYRP1) MANE Select ENSP00000373570.4:p.Asn353ValfsTer?
ENST00000381136.2:c.187_190del (TYRP1) ENSP00000370528.2:p.Asn63ValfsTer?
ENST00000381142.3:n.294_297del (TYRP1)
ENST00000388918.9:c.1057_1060del (TYRP1) ENSP00000373570.4:p.Asn353ValfsTer?
ENST00000470909.1:n.315_318del (TYRP1)
NM_000550.2:c.1057_1060del (TYRP1) NP_000541.1:p.Asn353ValfsTer?
NR_125775.1:n.317-1788_317-1785del (LURAP1L-AS1)
XR_001746372.2:n.1041_1044del (TYRP1)
NM_000550.3:c.1057_1060del (TYRP1) MANE Select NP_000541.1:p.Asn353ValfsTer?