Canonical Allele Identifier: CA389129567

Gene: APEX1

Linked Data

• MyVariant Identifiers: chr14:g.20924242T>G (hg19) ; chr14:g.20456083T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456083T>G , CM000676.2:g.20456083T>G	GRCh38
NC_000014.8:g.20924242T>G , CM000676.1:g.20924242T>G	GRCh37
NC_000014.7:g.19994082T>G	NCBI36
NG_008718.1:g.5953T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.228T>G MANE Select	ENSP00000216714.3:p.Ile76Met
ENST00000216714.7:c.228T>G	ENSP00000216714.3:p.Ile76Met
ENST00000398030.8:c.228T>G	ENSP00000381111.4:p.Ile76Met
ENST00000438886.1:c.77T>G
ENST00000553555.5:n.648T>G
ENST00000553681.5:c.228T>G	ENSP00000451327.1:p.Ile76Met
ENST00000554325.1:c.*148T>G	ENSP00000450604.1:n.*148T>G
ENST00000554813.5:n.294T>G
ENST00000555306.5:n.675T>G
ENST00000555414.5:c.228T>G	ENSP00000451979.1:p.Ile76Met
ENST00000555839.5:c.228T>G	ENSP00000452460.1:p.Ile76Met
ENST00000556054.5:c.228T>G	ENSP00000451170.1:p.Ile76Met
ENST00000557054.1:c.27+411T>G	ENSP00000452212.2:n.27+411T>G
ENST00000557150.5:c.177T>G	ENSP00000452418.1:p.Ile59Met
ENST00000557159.5:n.844T>G
ENST00000557181.5:c.228T>G	ENSP00000452304.1:p.Ile76Met
ENST00000557344.5:c.228T>G	ENSP00000452137.1:p.Ile76Met
ENST00000557365.1:n.308T>G
ENST00000557592.5:c.177T>G	ENSP00000451060.1:p.Ile59Met
NM_001244249.1:c.228T>G	NP_001231178.1:p.Ile76Met
NM_001641.3:c.228T>G	NP_001632.2:p.Ile76Met
NM_080648.2:c.228T>G	NP_542379.1:p.Ile76Met
NM_080649.2:c.228T>G	NP_542380.1:p.Ile76Met
XM_005267581.3:c.228T>G	XP_005267638.1:p.Ile76Met
XM_005267582.3:c.177T>G	XP_005267639.1:p.Ile59Met
NM_001641.4:c.228T>G MANE Select	NP_001632.2:p.Ile76Met
NM_001244249.2:c.228T>G	NP_001231178.1:p.Ile76Met
NM_080648.3:c.228T>G	NP_542379.1:p.Ile76Met
NM_080649.3:c.228T>G	NP_542380.1:p.Ile76Met