Canonical Allele Identifier: CA206087
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.12704589T>C
GRCh37 chr9:g.12704589T>C
Revel Score:
ENST00000381137 0.940
ENST00000388918 (MANE Select) 0.940
ENST00000381136 0.940
gnomAD v2:
9:12704589 T / C
gnomAD v4:
chr9-12704589-T-C
Joint Max Group AF 0.00000875 (SAS)
Exomes Max Group AF 0.00000924 (SAS)
ClinVar RCV:
RCV000192929
ClinVar Variation:
212527
dbSNP:
776174514
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12704589T>C , CM000671.2:g.12704589T>C GRCh38
NC_000009.11:g.12704589T>C , CM000671.1:g.12704589T>C GRCh37
NC_000009.10:g.12694589T>C NCBI36
NG_011705.1:g.16204T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1145T>C (TYRP1) MANE Select ENSP00000373570.4:p.Leu382Pro
ENST00000381136.2:c.275T>C (TYRP1) ENSP00000370528.2:p.Leu92Pro
ENST00000381142.3:n.382T>C (TYRP1)
ENST00000388918.9:c.1145T>C (TYRP1) ENSP00000373570.4:p.Leu382Pro
NM_000550.2:c.1145T>C (TYRP1) NP_000541.1:p.Leu382Pro
NR_125775.1:n.317-3963A>G (LURAP1L-AS1)
XR_001746372.2:n.1129T>C (TYRP1)
NM_000550.3:c.1145T>C (TYRP1) MANE Select NP_000541.1:p.Leu382Pro
Search 100 bp 5'
Search 100 bp 3'