Canonical Allele Identifier: CA581616611

Gene: THAP1

Linked Data

• dbSNP Id: rs933151179
• gnomAD v2: 8-42693974-G-C
• gnomAD v3: 8-42838831-G-C
• gnomAD v4: 8-42838831-G-C
• MyVariant Identifiers: chr8:g.42693974G>C (hg19) ; chr8:g.42838831G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42838831G>C , CM000670.2:g.42838831G>C	GRCh38
NC_000008.10:g.42693974G>C , CM000670.1:g.42693974G>C	GRCh37
NC_000008.9:g.42813131G>C	NCBI36
NG_011837.1:g.9501C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254250.7:c.267+355C>G MANE Select	ENSP00000254250.3:n.267+355C>G
ENST00000345117.2:c.72-495C>G	ENSP00000344966.2:n.72-495C>G
ENST00000529779.1:c.267+355C>G	ENSP00000433912.1:n.267+355C>G
NM_018105.2:c.267+355C>G	NP_060575.1:n.267+355C>G
NM_199003.1:c.72-495C>G	NP_945354.1:n.72-495C>G
NM_018105.3:c.267+355C>G MANE Select	NP_060575.1:n.267+355C>G
NM_199003.2:c.72-495C>G	NP_945354.1:n.72-495C>G