Canonical Allele Identifier: CA4985577
Gene: TYRP1 HGNC NCBI
LURAP1L-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 256643
ClinVar RCV Id: RCV000241563 RCV001515760 RCV002243936
dbSNP Id: rs147565972
ExAC: 9:12708958 T / TA
gnomAD v2: 9-12708958-T-TA
gnomAD v3: 9-12708958-T-TA
gnomAD v4: 9-12708958-T-TA
MyVariant Identifiers: chr9:g.12708959dupA (hg19) chr9:g.12708959_12708960insA (hg19) chr9:g.12708958_12708959insA (hg19) chr9:g.12708959dupA (hg38) chr9:g.12708959_12708960insA (hg38) chr9:g.12708958_12708959insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.12708959dup , CM000671.2:g.12708959dup GRCh38
NC_000009.11:g.12708959dup , CM000671.1:g.12708959dup GRCh37
NC_000009.10:g.12698959dup NCBI36
NG_011705.1:g.20574dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000388918.10:c.1409-18dup (TYRP1) MANE Select ENSP00000373570.4:n.1409-18dup
ENST00000381136.2:c.539-18dup (TYRP1) ENSP00000370528.2:n.539-18dup
ENST00000381142.3:n.499-18dup (TYRP1)
ENST00000388918.9:c.1409-18dup (TYRP1) ENSP00000373570.4:n.1409-18dup
ENST00000473504.1:n.474-18dup (TYRP1)
NM_000550.2:c.1409-18dup (TYRP1) NP_000541.1:n.1409-18dup
NR_125775.1:n.317-8333dup (LURAP1L-AS1)
XR_001746372.2:n.1393-18dup (TYRP1)
NM_000550.3:c.1409-18dup (TYRP1) MANE Select NP_000541.1:n.1409-18dup
Search 100 bp 5'
Search 100 bp 3'