Canonical Allele Identifier: CA372942616

Gene: TYRP1 LURAP1L-AS1

Linked Data

• dbSNP Id: rs1395676854
• gnomAD v2: 9-12704591-T-C
• gnomAD v3: 9-12704591-T-C
• gnomAD v4: 9-12704591-T-C
• MyVariant Identifiers: chr9:g.12704591T>C (hg19) ; chr9:g.12704591T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.12704591T>C , CM000671.2:g.12704591T>C	GRCh38
NC_000009.11:g.12704591T>C , CM000671.1:g.12704591T>C	GRCh37
NC_000009.10:g.12694591T>C	NCBI36
NG_011705.1:g.16206T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388918.10:c.1147T>C (TYRP1) MANE Select	ENSP00000373570.4:p.Phe383Leu
ENST00000381136.2:c.277T>C (TYRP1)	ENSP00000370528.2:p.Phe93Leu
ENST00000381142.3:n.384T>C (TYRP1)
ENST00000388918.9:c.1147T>C (TYRP1)	ENSP00000373570.4:p.Phe383Leu
NM_000550.2:c.1147T>C (TYRP1)	NP_000541.1:p.Phe383Leu
NR_125775.1:n.317-3965A>G (LURAP1L-AS1)
XR_001746372.2:n.1131T>C (TYRP1)
NM_000550.3:c.1147T>C (TYRP1) MANE Select	NP_000541.1:p.Phe383Leu