Canonical Allele Identifier: CA371107681

Gene: THAP1

Linked Data

• MyVariant Identifiers: chr8:g.42694342T>G (hg19) ; chr8:g.42839199T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42839199T>G , CM000670.2:g.42839199T>G	GRCh38
NC_000008.10:g.42694342T>G , CM000670.1:g.42694342T>G	GRCh37
NC_000008.9:g.42813499T>G	NCBI36
NG_011837.1:g.9133A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254250.7:c.254A>C MANE Select	ENSP00000254250.3:p.Glu85Ala
ENST00000345117.2:c.72-863A>C	ENSP00000344966.2:n.72-863A>C
ENST00000529779.1:c.254A>C	ENSP00000433912.1:p.Glu85Ala
NM_018105.2:c.254A>C	NP_060575.1:p.Glu85Ala
NM_199003.1:c.72-863A>C	NP_945354.1:n.72-863A>C
NM_018105.3:c.254A>C MANE Select	NP_060575.1:p.Glu85Ala
NM_199003.2:c.72-863A>C	NP_945354.1:n.72-863A>C