Canonical Allele Identifier: CA4985514
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 749161
ClinVar RCV Id: RCV000926009
dbSNP Id: rs138106141
ExAC: 9:12708013 A / G
gnomAD v2: 9-12708013-A-G
gnomAD v3: 9-12708013-A-G
gnomAD v4: 9-12708013-A-G
MyVariant Identifiers: chr9:g.12708013A>G (hg19) chr9:g.12708013A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12708013A>G , CM000671.2:g.12708013A>G GRCh38
NC_000009.11:g.12708013A>G , CM000671.1:g.12708013A>G GRCh37
NC_000009.10:g.12698013A>G NCBI36
NG_011705.1:g.19628A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1278A>G (TYRP1) MANE Select ENSP00000373570.4:p.Pro426=
ENST00000381136.2:c.408A>G (TYRP1) ENSP00000370528.2:p.Pro136=
ENST00000381142.3:n.499-964A>G (TYRP1)
ENST00000388918.9:c.1278A>G (TYRP1) ENSP00000373570.4:p.Pro426=
ENST00000473504.1:n.343A>G (TYRP1)
NM_000550.2:c.1278A>G (TYRP1) NP_000541.1:p.Pro426=
NR_125775.1:n.317-7387T>C (LURAP1L-AS1)
XR_001746372.2:n.1262A>G (TYRP1)
NM_000550.3:c.1278A>G (TYRP1) MANE Select NP_000541.1:p.Pro426=
Search 100 bp 5'
Search 100 bp 3'