Canonical Allele Identifier: CA371107779

Gene: THAP1

Linked Data

• MyVariant Identifiers: chr8:g.42694388T>C (hg19) ; chr8:g.42839245T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42839245T>C , CM000670.2:g.42839245T>C	GRCh38
NC_000008.10:g.42694388T>C , CM000670.1:g.42694388T>C	GRCh37
NC_000008.9:g.42813545T>C	NCBI36
NG_011837.1:g.9087A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254250.7:c.208A>G MANE Select	ENSP00000254250.3:p.Lys70Glu
ENST00000345117.2:c.72-909A>G	ENSP00000344966.2:n.72-909A>G
ENST00000529779.1:c.208A>G	ENSP00000433912.1:p.Lys70Glu
ENST00000532093.1:n.438A>G
NM_018105.2:c.208A>G	NP_060575.1:p.Lys70Glu
NM_199003.1:c.72-909A>G	NP_945354.1:n.72-909A>G
NM_018105.3:c.208A>G MANE Select	NP_060575.1:p.Lys70Glu
NM_199003.2:c.72-909A>G	NP_945354.1:n.72-909A>G