Canonical Allele Identifier: CA463860510
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2869239
ClinVar RCV Id: RCV003705413
dbSNP Id: rs1352921355
gnomAD v2: 9-12708076-C-T
gnomAD v3: 9-12708076-C-T
gnomAD v4: 9-12708076-C-T
MyVariant Identifiers: chr9:g.12708076C>T (hg19) chr9:g.12708076C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12708076C>T , CM000671.2:g.12708076C>T GRCh38
NC_000009.11:g.12708076C>T , CM000671.1:g.12708076C>T GRCh37
NC_000009.10:g.12698076C>T NCBI36
NG_011705.1:g.19691C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1341C>T (TYRP1) MANE Select ENSP00000373570.4:p.Val447=
ENST00000381136.2:c.471C>T (TYRP1) ENSP00000370528.2:p.Val157=
ENST00000381142.3:n.499-901C>T (TYRP1)
ENST00000388918.9:c.1341C>T (TYRP1) ENSP00000373570.4:p.Val447=
ENST00000473504.1:n.406C>T (TYRP1)
NM_000550.2:c.1341C>T (TYRP1) NP_000541.1:p.Val447=
NR_125775.1:n.317-7450G>A (LURAP1L-AS1)
XR_001746372.2:n.1325C>T (TYRP1)
NM_000550.3:c.1341C>T (TYRP1) MANE Select NP_000541.1:p.Val447=
Search 100 bp 5'
Search 100 bp 3'