Canonical Allele Identifier: CA372943982

Gene: TYRP1 LURAP1L-AS1

Linked Data

• ClinVar Variation Id: 2085078
• ClinVar RCV Id: RCV003011469
• COSMIC: COSM1269589
• MyVariant Identifiers: chr9:g.12708093T>C (hg19) ; chr9:g.12708093T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.12708093T>C , CM000671.2:g.12708093T>C	GRCh38
NC_000009.11:g.12708093T>C , CM000671.1:g.12708093T>C	GRCh37
NC_000009.10:g.12698093T>C	NCBI36
NG_011705.1:g.19708T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388918.10:c.1358T>C (TYRP1) MANE Select	ENSP00000373570.4:p.Phe453Ser
ENST00000381136.2:c.488T>C (TYRP1)	ENSP00000370528.2:p.Phe163Ser
ENST00000381142.3:n.499-884T>C (TYRP1)
ENST00000388918.9:c.1358T>C (TYRP1)	ENSP00000373570.4:p.Phe453Ser
ENST00000473504.1:n.423T>C (TYRP1)
NM_000550.2:c.1358T>C (TYRP1)	NP_000541.1:p.Phe453Ser
NR_125775.1:n.317-7467A>G (LURAP1L-AS1)
XR_001746372.2:n.1342T>C (TYRP1)
NM_000550.3:c.1358T>C (TYRP1) MANE Select	NP_000541.1:p.Phe453Ser