Canonical Allele Identifier: CA2122042130

Gene: APEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457281C= , CM000676.2:g.20457281C=	GRCh38
NC_000014.8:g.20925440C= , CM000676.1:g.20925440C=	GRCh37
NC_000014.7:g.19995280C=	NCBI36
NG_008718.1:g.7151C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.730C= MANE Select	ENSP00000216714.3:p.Leu244=
ENST00000216714.7:c.730C=	ENSP00000216714.3:p.Leu244=
ENST00000398030.8:c.730C=	ENSP00000381111.4:p.Leu244=
ENST00000553555.5:n.1150C=
ENST00000553681.5:c.730C=	ENSP00000451327.1:p.Leu244=
ENST00000555414.5:c.730C=	ENSP00000451979.1:p.Leu244=
ENST00000555839.5:c.643C=	ENSP00000452460.1:p.Leu215=
ENST00000557054.1:c.*141C=	ENSP00000452212.2:n.*141C=
ENST00000557159.5:n.1346C=
ENST00000557365.1:n.810C=
NM_001244249.1:c.730C=	NP_001231178.1:p.Leu244=
NM_001641.3:c.730C=	NP_001632.2:p.Leu244=
NM_080648.2:c.730C=	NP_542379.1:p.Leu244=
NM_080649.2:c.730C=	NP_542380.1:p.Leu244=
XM_005267581.3:c.730C=	XP_005267638.1:p.Leu244=
XM_005267582.3:c.679C=	XP_005267639.1:p.Leu227=
NM_001641.4:c.730C= MANE Select	NP_001632.2:p.Leu244=
NM_001244249.2:c.730C=	NP_001231178.1:p.Leu244=
NM_080648.3:c.730C=	NP_542379.1:p.Leu244=
NM_080649.3:c.730C=	NP_542380.1:p.Leu244=