Canonical Allele Identifier: CA371107934

Gene: THAP1

Linked Data

• MyVariant Identifiers: chr8:g.42694430C>T (hg19) ; chr8:g.42839287C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42839287C>T , CM000670.2:g.42839287C>T	GRCh38
NC_000008.10:g.42694430C>T , CM000670.1:g.42694430C>T	GRCh37
NC_000008.9:g.42813587C>T	NCBI36
NG_011837.1:g.9045G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254250.7:c.166G>A MANE Select	ENSP00000254250.3:p.Glu56Lys
ENST00000345117.2:c.72-951G>A	ENSP00000344966.2:n.72-951G>A
ENST00000529779.1:c.166G>A	ENSP00000433912.1:p.Glu56Lys
ENST00000532093.1:n.396G>A
NM_018105.2:c.166G>A	NP_060575.1:p.Glu56Lys
NM_199003.1:c.72-951G>A	NP_945354.1:n.72-951G>A
NM_018105.3:c.166G>A MANE Select	NP_060575.1:p.Glu56Lys
NM_199003.2:c.72-951G>A	NP_945354.1:n.72-951G>A