Canonical Allele Identifier: CA389132740

Gene: APEX1

Linked Data

• dbSNP Id: rs1483061992
• gnomAD v2: 14-20925368-C-G
• gnomAD v4: 14-20457209-C-G
• MyVariant Identifiers: chr14:g.20925368C>G (hg19) ; chr14:g.20457209C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457209C>G , CM000676.2:g.20457209C>G	GRCh38
NC_000014.8:g.20925368C>G , CM000676.1:g.20925368C>G	GRCh37
NC_000014.7:g.19995208C>G	NCBI36
NG_008718.1:g.7079C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.658C>G MANE Select	ENSP00000216714.3:p.Leu220Val
ENST00000216714.7:c.658C>G	ENSP00000216714.3:p.Leu220Val
ENST00000398030.8:c.658C>G	ENSP00000381111.4:p.Leu220Val
ENST00000438886.1:c.438C>G
ENST00000553555.5:n.1078C>G
ENST00000553681.5:c.658C>G	ENSP00000451327.1:p.Leu220Val
ENST00000555414.5:c.658C>G	ENSP00000451979.1:p.Leu220Val
ENST00000555839.5:c.571C>G	ENSP00000452460.1:p.Leu191Val
ENST00000557054.1:c.*69C>G	ENSP00000452212.2:n.*69C>G
ENST00000557159.5:n.1274C>G
ENST00000557365.1:n.738C>G
NM_001244249.1:c.658C>G	NP_001231178.1:p.Leu220Val
NM_001641.3:c.658C>G	NP_001632.2:p.Leu220Val
NM_080648.2:c.658C>G	NP_542379.1:p.Leu220Val
NM_080649.2:c.658C>G	NP_542380.1:p.Leu220Val
XM_005267581.3:c.658C>G	XP_005267638.1:p.Leu220Val
XM_005267582.3:c.607C>G	XP_005267639.1:p.Leu203Val
NM_001641.4:c.658C>G MANE Select	NP_001632.2:p.Leu220Val
NM_001244249.2:c.658C>G	NP_001231178.1:p.Leu220Val
NM_080648.3:c.658C>G	NP_542379.1:p.Leu220Val
NM_080649.3:c.658C>G	NP_542380.1:p.Leu220Val