Canonical Allele Identifier: CA389133374

Gene: APEX1

Linked Data

• MyVariant Identifiers: chr14:g.20925450T>G (hg19) ; chr14:g.20457291T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457291T>G , CM000676.2:g.20457291T>G	GRCh38
NC_000014.8:g.20925450T>G , CM000676.1:g.20925450T>G	GRCh37
NC_000014.7:g.19995290T>G	NCBI36
NG_008718.1:g.7161T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.740T>G MANE Select	ENSP00000216714.3:p.Val247Gly
ENST00000216714.7:c.740T>G	ENSP00000216714.3:p.Val247Gly
ENST00000398030.8:c.740T>G	ENSP00000381111.4:p.Val247Gly
ENST00000553555.5:n.1160T>G
ENST00000553681.5:c.740T>G	ENSP00000451327.1:p.Val247Gly
ENST00000555414.5:c.740T>G	ENSP00000451979.1:p.Val247Gly
ENST00000555839.5:c.653T>G	ENSP00000452460.1:p.Val218Gly
ENST00000557054.1:c.*151T>G	ENSP00000452212.2:n.*151T>G
ENST00000557159.5:n.1356T>G
ENST00000557365.1:n.820T>G
NM_001244249.1:c.740T>G	NP_001231178.1:p.Val247Gly
NM_001641.3:c.740T>G	NP_001632.2:p.Val247Gly
NM_080648.2:c.740T>G	NP_542379.1:p.Val247Gly
NM_080649.2:c.740T>G	NP_542380.1:p.Val247Gly
XM_005267581.3:c.740T>G	XP_005267638.1:p.Val247Gly
XM_005267582.3:c.689T>G	XP_005267639.1:p.Val230Gly
NM_001641.4:c.740T>G MANE Select	NP_001632.2:p.Val247Gly
NM_001244249.2:c.740T>G	NP_001231178.1:p.Val247Gly
NM_080648.3:c.740T>G	NP_542379.1:p.Val247Gly
NM_080649.3:c.740T>G	NP_542380.1:p.Val247Gly