Canonical Allele Identifier: CA2122041928

Gene: APEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457184C= , CM000676.2:g.20457184C=	GRCh38
NC_000014.8:g.20925343C= , CM000676.1:g.20925343C=	GRCh37
NC_000014.7:g.19995183C=	NCBI36
NG_008718.1:g.7054C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.633C= MANE Select	ENSP00000216714.3:p.Leu211=
ENST00000216714.7:c.633C=	ENSP00000216714.3:p.Leu211=
ENST00000398030.8:c.633C=	ENSP00000381111.4:p.Leu211=
ENST00000438886.1:c.413C=
ENST00000553555.5:n.1053C=
ENST00000553681.5:c.633C=	ENSP00000451327.1:p.Leu211=
ENST00000555414.5:c.633C=	ENSP00000451979.1:p.Leu211=
ENST00000555839.5:c.546C=	ENSP00000452460.1:p.Leu182=
ENST00000557054.1:c.*44C=	ENSP00000452212.2:n.*44C=
ENST00000557159.5:n.1249C=
ENST00000557365.1:n.713C=
NM_001244249.1:c.633C=	NP_001231178.1:p.Leu211=
NM_001641.3:c.633C=	NP_001632.2:p.Leu211=
NM_080648.2:c.633C=	NP_542379.1:p.Leu211=
NM_080649.2:c.633C=	NP_542380.1:p.Leu211=
XM_005267581.3:c.633C=	XP_005267638.1:p.Leu211=
XM_005267582.3:c.582C=	XP_005267639.1:p.Leu194=
NM_001641.4:c.633C= MANE Select	NP_001632.2:p.Leu211=
NM_001244249.2:c.633C=	NP_001231178.1:p.Leu211=
NM_080648.3:c.633C=	NP_542379.1:p.Leu211=
NM_080649.3:c.633C=	NP_542380.1:p.Leu211=