Canonical Allele Identifier: CA389132429

Gene: APEX1

Linked Data

• MyVariant Identifiers: chr14:g.20925329C>A (hg19) ; chr14:g.20457170C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457170C>A , CM000676.2:g.20457170C>A	GRCh38
NC_000014.8:g.20925329C>A , CM000676.1:g.20925329C>A	GRCh37
NC_000014.7:g.19995169C>A	NCBI36
NG_008718.1:g.7040C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.619C>A MANE Select	ENSP00000216714.3:p.Leu207Met
ENST00000216714.7:c.619C>A	ENSP00000216714.3:p.Leu207Met
ENST00000398030.8:c.619C>A	ENSP00000381111.4:p.Leu207Met
ENST00000438886.1:c.399C>A
ENST00000553555.5:n.1039C>A
ENST00000553681.5:c.619C>A	ENSP00000451327.1:p.Leu207Met
ENST00000555414.5:c.619C>A	ENSP00000451979.1:p.Leu207Met
ENST00000555839.5:c.532C>A	ENSP00000452460.1:p.Leu178Met
ENST00000557054.1:c.*30C>A	ENSP00000452212.2:n.*30C>A
ENST00000557159.5:n.1235C>A
ENST00000557365.1:n.699C>A
NM_001244249.1:c.619C>A	NP_001231178.1:p.Leu207Met
NM_001641.3:c.619C>A	NP_001632.2:p.Leu207Met
NM_080648.2:c.619C>A	NP_542379.1:p.Leu207Met
NM_080649.2:c.619C>A	NP_542380.1:p.Leu207Met
XM_005267581.3:c.619C>A	XP_005267638.1:p.Leu207Met
XM_005267582.3:c.568C>A	XP_005267639.1:p.Leu190Met
NM_001641.4:c.619C>A MANE Select	NP_001632.2:p.Leu207Met
NM_001244249.2:c.619C>A	NP_001231178.1:p.Leu207Met
NM_080648.3:c.619C>A	NP_542379.1:p.Leu207Met
NM_080649.3:c.619C>A	NP_542380.1:p.Leu207Met