Canonical Allele Identifier: CA389132314

Gene: APEX1

Linked Data

• dbSNP Id: rs1881433715
• gnomAD v3: 14-20457146-C-A
• gnomAD v4: 14-20457146-C-A
• MyVariant Identifiers: chr14:g.20925305C>A (hg19) ; chr14:g.20457146C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457146C>A , CM000676.2:g.20457146C>A	GRCh38
NC_000014.8:g.20925305C>A , CM000676.1:g.20925305C>A	GRCh37
NC_000014.7:g.19995145C>A	NCBI36
NG_008718.1:g.7016C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.595C>A MANE Select	ENSP00000216714.3:p.Leu199Met
ENST00000216714.7:c.595C>A	ENSP00000216714.3:p.Leu199Met
ENST00000398030.8:c.595C>A	ENSP00000381111.4:p.Leu199Met
ENST00000438886.1:c.375C>A
ENST00000553555.5:n.1015C>A
ENST00000553681.5:c.595C>A	ENSP00000451327.1:p.Leu199Met
ENST00000555414.5:c.595C>A	ENSP00000451979.1:p.Leu199Met
ENST00000555839.5:c.508C>A	ENSP00000452460.1:p.Leu170Met
ENST00000557054.1:c.*6C>A	ENSP00000452212.2:n.*6C>A
ENST00000557159.5:n.1211C>A
ENST00000557365.1:n.675C>A
NM_001244249.1:c.595C>A	NP_001231178.1:p.Leu199Met
NM_001641.3:c.595C>A	NP_001632.2:p.Leu199Met
NM_080648.2:c.595C>A	NP_542379.1:p.Leu199Met
NM_080649.2:c.595C>A	NP_542380.1:p.Leu199Met
XM_005267581.3:c.595C>A	XP_005267638.1:p.Leu199Met
XM_005267582.3:c.544C>A	XP_005267639.1:p.Leu182Met
NM_001641.4:c.595C>A MANE Select	NP_001632.2:p.Leu199Met
NM_001244249.2:c.595C>A	NP_001231178.1:p.Leu199Met
NM_080648.3:c.595C>A	NP_542379.1:p.Leu199Met
NM_080649.3:c.595C>A	NP_542380.1:p.Leu199Met