Canonical Allele Identifier: CA371107708

Gene: THAP1

Linked Data

• ClinVar Variation Id: 2017655
• ClinVar RCV Id: RCV002856928
• MyVariant Identifiers: chr8:g.42694355A>C (hg19) ; chr8:g.42839212A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42839212A>C , CM000670.2:g.42839212A>C	GRCh38
NC_000008.10:g.42694355A>C , CM000670.1:g.42694355A>C	GRCh37
NC_000008.9:g.42813512A>C	NCBI36
NG_011837.1:g.9120T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254250.7:c.241T>G MANE Select	ENSP00000254250.3:p.Phe81Val
ENST00000345117.2:c.72-876T>G	ENSP00000344966.2:n.72-876T>G
ENST00000529779.1:c.241T>G	ENSP00000433912.1:p.Phe81Val
ENST00000532093.1:n.471T>G
NM_018105.2:c.241T>G	NP_060575.1:p.Phe81Val
NM_199003.1:c.72-876T>G	NP_945354.1:n.72-876T>G
NM_018105.3:c.241T>G MANE Select	NP_060575.1:p.Phe81Val
NM_199003.2:c.72-876T>G	NP_945354.1:n.72-876T>G