Canonical Allele Identifier: CA4734579

Gene: THAP1

Linked Data

• dbSNP Id: rs556983053
• ExAC: 8:42694340 G / C
• gnomAD v2: 8-42694340-G-C
• gnomAD v3: 8-42839197-G-C
• gnomAD v4: 8-42839197-G-C
• MyVariant Identifiers: chr8:g.42694340G>C (hg19) ; chr8:g.42839197G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42839197G>C , CM000670.2:g.42839197G>C	GRCh38
NC_000008.10:g.42694340G>C , CM000670.1:g.42694340G>C	GRCh37
NC_000008.9:g.42813497G>C	NCBI36
NG_011837.1:g.9135C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254250.7:c.256C>G MANE Select	ENSP00000254250.3:p.Pro86Ala
ENST00000345117.2:c.72-861C>G	ENSP00000344966.2:n.72-861C>G
ENST00000529779.1:c.256C>G	ENSP00000433912.1:p.Pro86Ala
NM_018105.2:c.256C>G	NP_060575.1:p.Pro86Ala
NM_199003.1:c.72-861C>G	NP_945354.1:n.72-861C>G
NM_018105.3:c.256C>G MANE Select	NP_060575.1:p.Pro86Ala
NM_199003.2:c.72-861C>G	NP_945354.1:n.72-861C>G