Canonical Allele Identifier: CA372943711
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1373539
ClinVar RCV Id: RCV001875240
dbSNP Id: rs1273754617
gnomAD v3: 9-12708011-C-T
gnomAD v4: 9-12708011-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12708011C>T , CM000671.2:g.12708011C>T GRCh38
NC_000009.11:g.12708011C>T , CM000671.1:g.12708011C>T GRCh37
NC_000009.10:g.12698011C>T NCBI36
NG_011705.1:g.19626C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1276C>T (TYRP1) MANE Select ENSP00000373570.4:p.Pro426Ser
ENST00000381136.2:c.406C>T (TYRP1) ENSP00000370528.2:p.Pro136Ser
ENST00000381142.3:n.499-966C>T (TYRP1)
ENST00000388918.9:c.1276C>T (TYRP1) ENSP00000373570.4:p.Pro426Ser
ENST00000473504.1:n.341C>T (TYRP1)
NM_000550.2:c.1276C>T (TYRP1) NP_000541.1:p.Pro426Ser
NR_125775.1:n.317-7385G>A (LURAP1L-AS1)
XR_001746372.2:n.1260C>T (TYRP1)
NM_000550.3:c.1276C>T (TYRP1) MANE Select NP_000541.1:p.Pro426Ser