Canonical Allele Identifier: CA4734531

Gene: THAP1

Linked Data

• ClinVar Variation Id: 521683
• ClinVar RCV Id: RCV000623068 ; RCV000766016
• dbSNP Id: rs767519301
• ExAC: 8:42693241 C / T
• gnomAD v2: 8-42693241-C-T
• gnomAD v4: 8-42838098-C-T
• MyVariant Identifiers: chr8:g.42693241C>T (hg19) ; chr8:g.42838098C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42838098C>T , CM000670.2:g.42838098C>T	GRCh38
NC_000008.10:g.42693241C>T , CM000670.1:g.42693241C>T	GRCh37
NC_000008.9:g.42812398C>T	NCBI36
NG_011837.1:g.10234G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254250.7:c.506G>A MANE Select	ENSP00000254250.3:p.Arg169Gln
ENST00000345117.2:c.*148G>A	ENSP00000344966.2:n.*148G>A
NM_018105.2:c.506G>A	NP_060575.1:p.Arg169Gln
NM_199003.1:c.*148G>A	NP_945354.1:n.*148G>A
NM_018105.3:c.506G>A MANE Select	NP_060575.1:p.Arg169Gln
NM_199003.2:c.*148G>A	NP_945354.1:n.*148G>A