Canonical Allele Identifier: CA389132911

Gene: APEX1

Linked Data

• MyVariant Identifiers: chr14:g.20925393A>C (hg19) ; chr14:g.20457234A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457234A>C , CM000676.2:g.20457234A>C	GRCh38
NC_000014.8:g.20925393A>C , CM000676.1:g.20925393A>C	GRCh37
NC_000014.7:g.19995233A>C	NCBI36
NG_008718.1:g.7104A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.683A>C MANE Select	ENSP00000216714.3:p.Lys228Thr
ENST00000216714.7:c.683A>C	ENSP00000216714.3:p.Lys228Thr
ENST00000398030.8:c.683A>C	ENSP00000381111.4:p.Lys228Thr
ENST00000553555.5:n.1103A>C
ENST00000553681.5:c.683A>C	ENSP00000451327.1:p.Lys228Thr
ENST00000555414.5:c.683A>C	ENSP00000451979.1:p.Lys228Thr
ENST00000555839.5:c.596A>C	ENSP00000452460.1:p.Lys199Thr
ENST00000557054.1:c.*94A>C	ENSP00000452212.2:n.*94A>C
ENST00000557159.5:n.1299A>C
ENST00000557365.1:n.763A>C
NM_001244249.1:c.683A>C	NP_001231178.1:p.Lys228Thr
NM_001641.3:c.683A>C	NP_001632.2:p.Lys228Thr
NM_080648.2:c.683A>C	NP_542379.1:p.Lys228Thr
NM_080649.2:c.683A>C	NP_542380.1:p.Lys228Thr
XM_005267581.3:c.683A>C	XP_005267638.1:p.Lys228Thr
XM_005267582.3:c.632A>C	XP_005267639.1:p.Lys211Thr
NM_001641.4:c.683A>C MANE Select	NP_001632.2:p.Lys228Thr
NM_001244249.2:c.683A>C	NP_001231178.1:p.Lys228Thr
NM_080648.3:c.683A>C	NP_542379.1:p.Lys228Thr
NM_080649.3:c.683A>C	NP_542380.1:p.Lys228Thr