Canonical Allele Identifier: CA4985388
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1948667
ClinVar RCV Id: RCV002667910
dbSNP Id: rs371838705
ExAC: 9:12702293 G / C
gnomAD v3: 9-12702293-G-C
gnomAD v4: 9-12702293-G-C
MyVariant Identifiers: chr9:g.12702293G>C (hg19) chr9:g.12702293G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12702293G>C , CM000671.2:g.12702293G>C GRCh38
NC_000009.11:g.12702293G>C , CM000671.1:g.12702293G>C GRCh37
NC_000009.10:g.12692293G>C NCBI36
NG_011705.1:g.13908G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.936G>C (TYRP1) MANE Select ENSP00000373570.4:p.Arg312Ser
ENST00000381136.2:c.66G>C (TYRP1) ENSP00000370528.2:p.Arg22Ser
ENST00000381142.3:n.173G>C (TYRP1)
ENST00000388918.9:c.936G>C (TYRP1) ENSP00000373570.4:p.Arg312Ser
ENST00000470909.1:n.194G>C (TYRP1)
NM_000550.2:c.936G>C (TYRP1) NP_000541.1:p.Arg312Ser
NR_125775.1:n.317-1667C>G (LURAP1L-AS1)
XR_001746372.2:n.920G>C (TYRP1)
NM_000550.3:c.936G>C (TYRP1) MANE Select NP_000541.1:p.Arg312Ser
Search 100 bp 5'
Search 100 bp 3'