Canonical Allele Identifier: CA371107968

Gene: THAP1

Linked Data

• MyVariant Identifiers: chr8:g.42694439T>A (hg19) ; chr8:g.42839296T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42839296T>A , CM000670.2:g.42839296T>A	GRCh38
NC_000008.10:g.42694439T>A , CM000670.1:g.42694439T>A	GRCh37
NC_000008.9:g.42813596T>A	NCBI36
NG_011837.1:g.9036A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254250.7:c.157A>T MANE Select	ENSP00000254250.3:p.Ile53Phe
ENST00000345117.2:c.72-960A>T	ENSP00000344966.2:n.72-960A>T
ENST00000529779.1:c.157A>T	ENSP00000433912.1:p.Ile53Phe
ENST00000532093.1:n.387A>T
NM_018105.2:c.157A>T	NP_060575.1:p.Ile53Phe
NM_199003.1:c.72-960A>T	NP_945354.1:n.72-960A>T
NM_018105.3:c.157A>T MANE Select	NP_060575.1:p.Ile53Phe
NM_199003.2:c.72-960A>T	NP_945354.1:n.72-960A>T