Canonical Allele Identifier: CA189317337
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs548569318
gnomAD v2: 9-12708068-C-T
gnomAD v3: 9-12708068-C-T
gnomAD v4: 9-12708068-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12708068C>T , CM000671.2:g.12708068C>T GRCh38
NC_000009.11:g.12708068C>T , CM000671.1:g.12708068C>T GRCh37
NC_000009.10:g.12698068C>T NCBI36
NG_011705.1:g.19683C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1333C>T (TYRP1) MANE Select ENSP00000373570.4:p.Pro445Ser
ENST00000381136.2:c.463C>T (TYRP1) ENSP00000370528.2:p.Pro155Ser
ENST00000381142.3:n.499-909C>T (TYRP1)
ENST00000388918.9:c.1333C>T (TYRP1) ENSP00000373570.4:p.Pro445Ser
ENST00000473504.1:n.398C>T (TYRP1)
NM_000550.2:c.1333C>T (TYRP1) NP_000541.1:p.Pro445Ser
NR_125775.1:n.317-7442G>A (LURAP1L-AS1)
XR_001746372.2:n.1317C>T (TYRP1)
NM_000550.3:c.1333C>T (TYRP1) MANE Select NP_000541.1:p.Pro445Ser