Canonical Allele Identifier: CA4985449
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1384675
ClinVar RCV Id: RCV001897765
dbSNP Id: rs776084293
ExAC: 9:12704548 G / T
gnomAD v2: 9-12704548-G-T
gnomAD v3: 9-12704548-G-T
gnomAD v4: 9-12704548-G-T
MyVariant Identifiers: chr9:g.12704548G>T (hg19) chr9:g.12704548G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12704548G>T , CM000671.2:g.12704548G>T GRCh38
NC_000009.11:g.12704548G>T , CM000671.1:g.12704548G>T GRCh37
NC_000009.10:g.12694548G>T NCBI36
NG_011705.1:g.16163G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1104G>T (TYRP1) MANE Select ENSP00000373570.4:p.Lys368Asn
ENST00000381136.2:c.234G>T (TYRP1) ENSP00000370528.2:p.Lys78Asn
ENST00000381142.3:n.341G>T (TYRP1)
ENST00000388918.9:c.1104G>T (TYRP1) ENSP00000373570.4:p.Lys368Asn
NM_000550.2:c.1104G>T (TYRP1) NP_000541.1:p.Lys368Asn
NR_125775.1:n.317-3922C>A (LURAP1L-AS1)
XR_001746372.2:n.1088G>T (TYRP1)
NM_000550.3:c.1104G>T (TYRP1) MANE Select NP_000541.1:p.Lys368Asn
Search 100 bp 5'
Search 100 bp 3'