Canonical Allele Identifier: CA372941673

Gene: TYRP1 LURAP1L-AS1

Linked Data

• dbSNP Id: rs1313073993
• gnomAD v3: 9-12702348-C-T
• gnomAD v4: 9-12702348-C-T
• MyVariant Identifiers: chr9:g.12702348C>T (hg19) ; chr9:g.12702348C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.12702348C>T , CM000671.2:g.12702348C>T	GRCh38
NC_000009.11:g.12702348C>T , CM000671.1:g.12702348C>T	GRCh37
NC_000009.10:g.12692348C>T	NCBI36
NG_011705.1:g.13963C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388918.10:c.991C>T (TYRP1) MANE Select	ENSP00000373570.4:p.Gln331Ter
ENST00000381136.2:c.121C>T (TYRP1)	ENSP00000370528.2:p.Gln41Ter
ENST00000381142.3:n.228C>T (TYRP1)
ENST00000388918.9:c.991C>T (TYRP1)	ENSP00000373570.4:p.Gln331Ter
ENST00000470909.1:n.249C>T (TYRP1)
NM_000550.2:c.991C>T (TYRP1)	NP_000541.1:p.Gln331Ter
NR_125775.1:n.317-1722G>A (LURAP1L-AS1)
XR_001746372.2:n.975C>T (TYRP1)
NM_000550.3:c.991C>T (TYRP1) MANE Select	NP_000541.1:p.Gln331Ter