Canonical Allele Identifier: CA389130490

Gene: APEX1

Linked Data

• MyVariant Identifiers: chr14:g.20924866G>T (hg19) ; chr14:g.20456707G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456707G>T , CM000676.2:g.20456707G>T	GRCh38
NC_000014.8:g.20924866G>T , CM000676.1:g.20924866G>T	GRCh37
NC_000014.7:g.19994706G>T	NCBI36
NG_008718.1:g.6577G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.286G>T MANE Select	ENSP00000216714.3:p.Glu96Ter
ENST00000216714.7:c.286G>T	ENSP00000216714.3:p.Glu96Ter
ENST00000398030.8:c.286G>T	ENSP00000381111.4:p.Glu96Ter
ENST00000438886.1:c.135G>T
ENST00000553555.5:n.706G>T
ENST00000553681.5:c.286G>T	ENSP00000451327.1:p.Glu96Ter
ENST00000554813.5:n.352G>T
ENST00000555306.5:n.733G>T
ENST00000555414.5:c.286G>T	ENSP00000451979.1:p.Glu96Ter
ENST00000555839.5:c.286G>T	ENSP00000452460.1:p.Glu96Ter
ENST00000556054.5:c.286G>T	ENSP00000451170.1:p.Glu96Ter
ENST00000557054.1:c.28-416G>T	ENSP00000452212.2:n.28-416G>T
ENST00000557150.5:c.235G>T	ENSP00000452418.1:p.Glu79Ter
ENST00000557159.5:n.902G>T
ENST00000557181.5:c.286G>T	ENSP00000452304.1:p.Glu96Ter
ENST00000557344.5:c.286G>T	ENSP00000452137.1:p.Glu96Ter
ENST00000557365.1:n.366G>T
ENST00000557592.5:c.235G>T	ENSP00000451060.1:p.Glu79Ter
NM_001244249.1:c.286G>T	NP_001231178.1:p.Glu96Ter
NM_001641.3:c.286G>T	NP_001632.2:p.Glu96Ter
NM_080648.2:c.286G>T	NP_542379.1:p.Glu96Ter
NM_080649.2:c.286G>T	NP_542380.1:p.Glu96Ter
XM_005267581.3:c.286G>T	XP_005267638.1:p.Glu96Ter
XM_005267582.3:c.235G>T	XP_005267639.1:p.Glu79Ter
NM_001641.4:c.286G>T MANE Select	NP_001632.2:p.Glu96Ter
NM_001244249.2:c.286G>T	NP_001231178.1:p.Glu96Ter
NM_080648.3:c.286G>T	NP_542379.1:p.Glu96Ter
NM_080649.3:c.286G>T	NP_542380.1:p.Glu96Ter