Canonical Allele Identifier: CA389132284

Gene: APEX1

Linked Data

• MyVariant Identifiers: chr14:g.20925300A>C (hg19) ; chr14:g.20457141A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457141A>C , CM000676.2:g.20457141A>C	GRCh38
NC_000014.8:g.20925300A>C , CM000676.1:g.20925300A>C	GRCh37
NC_000014.7:g.19995140A>C	NCBI36
NG_008718.1:g.7011A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.590A>C MANE Select	ENSP00000216714.3:p.Lys197Thr
ENST00000216714.7:c.590A>C	ENSP00000216714.3:p.Lys197Thr
ENST00000398030.8:c.590A>C	ENSP00000381111.4:p.Lys197Thr
ENST00000438886.1:c.370A>C
ENST00000553555.5:n.1010A>C
ENST00000553681.5:c.590A>C	ENSP00000451327.1:p.Lys197Thr
ENST00000555414.5:c.590A>C	ENSP00000451979.1:p.Lys197Thr
ENST00000555839.5:c.503A>C	ENSP00000452460.1:p.Lys168Thr
ENST00000557054.1:c.*1A>C	ENSP00000452212.2:n.*1A>C
ENST00000557159.5:n.1206A>C
ENST00000557365.1:n.670A>C
NM_001244249.1:c.590A>C	NP_001231178.1:p.Lys197Thr
NM_001641.3:c.590A>C	NP_001632.2:p.Lys197Thr
NM_080648.2:c.590A>C	NP_542379.1:p.Lys197Thr
NM_080649.2:c.590A>C	NP_542380.1:p.Lys197Thr
XM_005267581.3:c.590A>C	XP_005267638.1:p.Lys197Thr
XM_005267582.3:c.539A>C	XP_005267639.1:p.Lys180Thr
NM_001641.4:c.590A>C MANE Select	NP_001632.2:p.Lys197Thr
NM_001244249.2:c.590A>C	NP_001231178.1:p.Lys197Thr
NM_080648.3:c.590A>C	NP_542379.1:p.Lys197Thr
NM_080649.3:c.590A>C	NP_542380.1:p.Lys197Thr