Canonical Allele Identifier: CA463860138
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2725385
ClinVar RCV Id: RCV003554558
dbSNP Id: rs1212936077
gnomAD v3: 9-12702341-T-C
gnomAD v4: 9-12702341-T-C
MyVariant Identifiers: chr9:g.12702341T>C (hg19) chr9:g.12702341T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12702341T>C , CM000671.2:g.12702341T>C GRCh38
NC_000009.11:g.12702341T>C , CM000671.1:g.12702341T>C GRCh37
NC_000009.10:g.12692341T>C NCBI36
NG_011705.1:g.13956T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.984T>C (TYRP1) MANE Select ENSP00000373570.4:p.Pro328=
ENST00000381136.2:c.114T>C (TYRP1) ENSP00000370528.2:p.Pro38=
ENST00000381142.3:n.221T>C (TYRP1)
ENST00000388918.9:c.984T>C (TYRP1) ENSP00000373570.4:p.Pro328=
ENST00000470909.1:n.242T>C (TYRP1)
NM_000550.2:c.984T>C (TYRP1) NP_000541.1:p.Pro328=
NR_125775.1:n.317-1715A>G (LURAP1L-AS1)
XR_001746372.2:n.968T>C (TYRP1)
NM_000550.3:c.984T>C (TYRP1) MANE Select NP_000541.1:p.Pro328=
Search 100 bp 5'
Search 100 bp 3'