Canonical Allele Identifier: CA2122041163

Gene: APEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456840T= , CM000676.2:g.20456840T=	GRCh38
NC_000014.8:g.20924999T= , CM000676.1:g.20924999T=	GRCh37
NC_000014.7:g.19994839T=	NCBI36
NG_008718.1:g.6710T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.419T= MANE Select	ENSP00000216714.3:p.Leu140=
ENST00000216714.7:c.419T=	ENSP00000216714.3:p.Leu140=
ENST00000398030.8:c.419T=	ENSP00000381111.4:p.Leu140=
ENST00000438886.1:c.268T=
ENST00000553555.5:n.839T=
ENST00000553681.5:c.419T=	ENSP00000451327.1:p.Leu140=
ENST00000554813.5:n.485T=
ENST00000555306.5:n.866T=
ENST00000555414.5:c.419T=	ENSP00000451979.1:p.Leu140=
ENST00000555839.5:c.419T=	ENSP00000452460.1:p.Leu140=
ENST00000556054.5:c.419T=	ENSP00000451170.1:p.Leu140=
ENST00000557054.1:c.28-283T=	ENSP00000452212.2:n.28-283T=
ENST00000557150.5:c.368T=	ENSP00000452418.1:p.Leu123=
ENST00000557159.5:n.1035T=
ENST00000557344.5:c.419T=	ENSP00000452137.1:p.Leu140=
ENST00000557365.1:n.499T=
ENST00000557592.5:c.368T=	ENSP00000451060.1:p.Leu123=
NM_001244249.1:c.419T=	NP_001231178.1:p.Leu140=
NM_001641.3:c.419T=	NP_001632.2:p.Leu140=
NM_080648.2:c.419T=	NP_542379.1:p.Leu140=
NM_080649.2:c.419T=	NP_542380.1:p.Leu140=
XM_005267581.3:c.419T=	XP_005267638.1:p.Leu140=
XM_005267582.3:c.368T=	XP_005267639.1:p.Leu123=
NM_001641.4:c.419T= MANE Select	NP_001632.2:p.Leu140=
NM_001244249.2:c.419T=	NP_001231178.1:p.Leu140=
NM_080648.3:c.419T=	NP_542379.1:p.Leu140=
NM_080649.3:c.419T=	NP_542380.1:p.Leu140=