Canonical Allele Identifier: CA127296

Gene: TYRP1 LURAP1L-AS1

Linked Data

• ClinVar Variation Id: 17596
• ClinVar RCV Id: RCV000019162 ; RCV000755096 ; RCV001851935 ; RCV002476990 ; RCV003390690
• dbSNP Id: rs281865424
• ExAC: 9:12702424 G / A
• gnomAD v2: 9-12702424-G-A
• gnomAD v3: 9-12702424-G-A
• gnomAD v4: 9-12702424-G-A
• MyVariant Identifiers: chr9:g.12702424G>A (hg19) ; chr9:g.12702424G>A (hg38)
• PubMed: PMID:16704458

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.12702424G>A , CM000671.2:g.12702424G>A	GRCh38
NC_000009.11:g.12702424G>A , CM000671.1:g.12702424G>A	GRCh37
NC_000009.10:g.12692424G>A	NCBI36
NG_011705.1:g.14039G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388918.10:c.1067G>A (TYRP1) MANE Select	ENSP00000373570.4:p.Arg356Gln
ENST00000381136.2:c.197G>A (TYRP1)	ENSP00000370528.2:p.Arg66Gln
ENST00000381142.3:n.304G>A (TYRP1)
ENST00000388918.9:c.1067G>A (TYRP1)	ENSP00000373570.4:p.Arg356Gln
ENST00000470909.1:n.325G>A (TYRP1)
NM_000550.2:c.1067G>A (TYRP1)	NP_000541.1:p.Arg356Gln
NR_125775.1:n.317-1798C>T (LURAP1L-AS1)
XR_001746372.2:n.1051G>A (TYRP1)
NM_000550.3:c.1067G>A (TYRP1) MANE Select	NP_000541.1:p.Arg356Gln