Canonical Allele Identifier: CA460569104

Gene: THAP1

Linked Data

• MyVariant Identifiers: chr8:g.42694385A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42839242A>G , CM000670.2:g.42839242A>G	GRCh38
NC_000008.10:g.42694385A>G , CM000670.1:g.42694385A>G	GRCh37
NC_000008.9:g.42813542A>G	NCBI36
NG_011837.1:g.9090T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254250.7:c.211T>C MANE Select	ENSP00000254250.3:p.Leu71=
ENST00000345117.2:c.72-906T>C	ENSP00000344966.2:n.72-906T>C
ENST00000529779.1:c.211T>C	ENSP00000433912.1:p.Leu71=
ENST00000532093.1:n.441T>C
NM_018105.2:c.211T>C	NP_060575.1:p.Leu71=
NM_199003.1:c.72-906T>C	NP_945354.1:n.72-906T>C
NM_018105.3:c.211T>C MANE Select	NP_060575.1:p.Leu71=
NM_199003.2:c.72-906T>C	NP_945354.1:n.72-906T>C