Canonical Allele Identifier: CA189317284
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1441200
ClinVar RCV Id: RCV001950579
dbSNP Id: rs141949653
gnomAD v2: 9-12708038-A-C
gnomAD v3: 9-12708038-A-C
gnomAD v4: 9-12708038-A-C
MyVariant Identifiers: chr9:g.12708038A>C (hg19) chr9:g.12708038A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12708038A>C , CM000671.2:g.12708038A>C GRCh38
NC_000009.11:g.12708038A>C , CM000671.1:g.12708038A>C GRCh37
NC_000009.10:g.12698038A>C NCBI36
NG_011705.1:g.19653A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1303A>C (TYRP1) MANE Select ENSP00000373570.4:p.Asn435His
ENST00000381136.2:c.433A>C (TYRP1) ENSP00000370528.2:p.Asn145His
ENST00000381142.3:n.499-939A>C (TYRP1)
ENST00000388918.9:c.1303A>C (TYRP1) ENSP00000373570.4:p.Asn435His
ENST00000473504.1:n.368A>C (TYRP1)
NM_000550.2:c.1303A>C (TYRP1) NP_000541.1:p.Asn435His
NR_125775.1:n.317-7412T>G (LURAP1L-AS1)
XR_001746372.2:n.1287A>C (TYRP1)
NM_000550.3:c.1303A>C (TYRP1) MANE Select NP_000541.1:p.Asn435His
Search 100 bp 5'
Search 100 bp 3'