Canonical Allele Identifier: CA2122038622

Gene: APEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20455257C= , CM000676.2:g.20455257C=	GRCh38
NC_000014.8:g.20923416C= , CM000676.1:g.20923416C=	GRCh37
NC_000014.7:g.19993256C=	NCBI36
NG_008718.1:g.5127C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001641.4:c.-206C= MANE Select	NP_001632.2:n.-206C=
ENST00000216714.8:c.-206C= MANE Select	ENSP00000216714.3:n.-206C=
NM_001244249.1:c.-201C=	NP_001231178.1:n.-201C=
NM_001244249.2:c.-201C=	NP_001231178.1:n.-201C=
NM_001641.3:c.-206C=	NP_001632.2:n.-206C=
NM_080648.2:c.-140C=	NP_542379.1:n.-140C=
NM_080648.3:c.-140C=	NP_542379.1:n.-140C=
NM_080649.2:c.-150C=	NP_542380.1:n.-150C=
NM_080649.3:c.-150C=	NP_542380.1:n.-150C=
ENST00000216714.7:c.-206C=	ENSP00000216714.3:n.-206C=
ENST00000398030.8:c.-140C=	ENSP00000381111.4:n.-140C=
ENST00000553368.1:c.-167C=	ENSP00000451491.1:n.-167C=
ENST00000553555.5:n.32C=
ENST00000553681.5:c.-69+17C=	ENSP00000451327.1:n.-69+17C=
ENST00000554325.1:c.-206C=	ENSP00000450604.1:n.-206C=
ENST00000554813.5:n.43C=
ENST00000555306.5:n.32C=
ENST00000555414.5:c.-150C=	ENSP00000451979.1:n.-150C=
ENST00000555839.5:c.-206C=	ENSP00000452460.1:n.-206C=
ENST00000556054.5:c.-240C=	ENSP00000451170.1:n.-240C=
ENST00000556296.1:n.39C=
ENST00000557054.1:c.-206C=	ENSP00000452212.2:n.-206C=
ENST00000557159.5:n.18C=
ENST00000557181.5:c.-213C=	ENSP00000452304.1:n.-213C=
ENST00000557344.5:c.-201C=	ENSP00000452137.1:n.-201C=
ENST00000557365.1:n.1C=
ENST00000557592.5:c.-114C=	ENSP00000451060.1:n.-114C=
XM_005267581.3:c.-240C=	XP_005267638.1:n.-240C=
XM_005267582.3:c.-327C=	XP_005267639.1:n.-327C=