Canonical Allele Identifier: CA389133394

Gene: APEX1

Linked Data

• MyVariant Identifiers: chr14:g.20925455C>A (hg19) ; chr14:g.20457296C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457296C>A , CM000676.2:g.20457296C>A	GRCh38
NC_000014.8:g.20925455C>A , CM000676.1:g.20925455C>A	GRCh37
NC_000014.7:g.19995295C>A	NCBI36
NG_008718.1:g.7166C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.745C>A MANE Select	ENSP00000216714.3:p.Leu249Met
ENST00000216714.7:c.745C>A	ENSP00000216714.3:p.Leu249Met
ENST00000398030.8:c.745C>A	ENSP00000381111.4:p.Leu249Met
ENST00000553555.5:n.1165C>A
ENST00000553681.5:c.745C>A	ENSP00000451327.1:p.Leu249Met
ENST00000555414.5:c.745C>A	ENSP00000451979.1:p.Leu249Met
ENST00000555839.5:c.658C>A	ENSP00000452460.1:p.Leu220Met
ENST00000557054.1:c.*156C>A	ENSP00000452212.2:n.*156C>A
ENST00000557159.5:n.1361C>A
ENST00000557365.1:n.825C>A
NM_001244249.1:c.745C>A	NP_001231178.1:p.Leu249Met
NM_001641.3:c.745C>A	NP_001632.2:p.Leu249Met
NM_080648.2:c.745C>A	NP_542379.1:p.Leu249Met
NM_080649.2:c.745C>A	NP_542380.1:p.Leu249Met
XM_005267581.3:c.745C>A	XP_005267638.1:p.Leu249Met
XM_005267582.3:c.694C>A	XP_005267639.1:p.Leu232Met
NM_001641.4:c.745C>A MANE Select	NP_001632.2:p.Leu249Met
NM_001244249.2:c.745C>A	NP_001231178.1:p.Leu249Met
NM_080648.3:c.745C>A	NP_542379.1:p.Leu249Met
NM_080649.3:c.745C>A	NP_542380.1:p.Leu249Met