Canonical Allele Identifier: CA5907469
Gene: TPH1 HGNC NCBI
COSMIC:
COSM147151 (not active)
COSM4419451 (not active)
MyVariant.info:
GRCh38 chr11:g.18025708G>T
GRCh37 chr11:g.18047255G>T
gnomAD v2:
11:18047255 G / T
gnomAD v3:
11:18025708 G / T
gnomAD v4:
chr11-18025708-G-T
Joint Max Group AF 0.47636471 (EAS)
Genomes Max Group AF 0.44592368 (EAS)
Exomes Max Group AF 0.47866956 (EAS)
ClinVar RCV:
RCV003984623
ClinVar Variation:
3060644
dbSNP:
1799913
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18025708G>T , CM000673.2:g.18025708G>T GRCh38
NC_000011.9:g.18047255G>T , CM000673.1:g.18047255G>T GRCh37
NC_000011.8:g.18003831G>T NCBI36
NG_011947.1:g.20081C>A
NG_011947.2:g.20081C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682019.1:c.804-7C>A MANE Select ENSP00000508368.1:n.804-7C>A
ENST00000250018.6:c.804-7C>A ENSP00000250018.2:n.804-7C>A
ENST00000417164.5:c.607-7C>A ENSP00000403831.1:n.607-7C>A
NM_004179.2:c.804-7C>A NP_004170.1:n.804-7C>A
NM_004179.3:c.804-7C>A MANE Select NP_004170.1:n.804-7C>A
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