Canonical Allele Identifier: CA2122042146

Gene: APEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457297T= , CM000676.2:g.20457297T=	GRCh38
NC_000014.8:g.20925456T= , CM000676.1:g.20925456T=	GRCh37
NC_000014.7:g.19995296T=	NCBI36
NG_008718.1:g.7167T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.746T= MANE Select	ENSP00000216714.3:p.Leu249=
ENST00000216714.7:c.746T=	ENSP00000216714.3:p.Leu249=
ENST00000398030.8:c.746T=	ENSP00000381111.4:p.Leu249=
ENST00000553555.5:n.1166T=
ENST00000553681.5:c.746T=	ENSP00000451327.1:p.Leu249=
ENST00000555414.5:c.746T=	ENSP00000451979.1:p.Leu249=
ENST00000555839.5:c.659T=	ENSP00000452460.1:p.Leu220=
ENST00000557054.1:c.*157T=	ENSP00000452212.2:n.*157T=
ENST00000557159.5:n.1362T=
ENST00000557365.1:n.826T=
NM_001244249.1:c.746T=	NP_001231178.1:p.Leu249=
NM_001641.3:c.746T=	NP_001632.2:p.Leu249=
NM_080648.2:c.746T=	NP_542379.1:p.Leu249=
NM_080649.2:c.746T=	NP_542380.1:p.Leu249=
XM_005267581.3:c.746T=	XP_005267638.1:p.Leu249=
XM_005267582.3:c.695T=	XP_005267639.1:p.Leu232=
NM_001641.4:c.746T= MANE Select	NP_001632.2:p.Leu249=
NM_001244249.2:c.746T=	NP_001231178.1:p.Leu249=
NM_080648.3:c.746T=	NP_542379.1:p.Leu249=
NM_080649.3:c.746T=	NP_542380.1:p.Leu249=