Canonical Allele Identifier: CA7081588

Gene: APEX1

Linked Data

• dbSNP Id: rs773873257
• ExAC: 14:20925227 C / T
• gnomAD v2: 14-20925227-C-T
• gnomAD v4: 14-20457068-C-T
• MyVariant Identifiers: chr14:g.20925227C>T (hg19) ; chr14:g.20457068C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457068C>T , CM000676.2:g.20457068C>T	GRCh38
NC_000014.8:g.20925227C>T , CM000676.1:g.20925227C>T	GRCh37
NC_000014.7:g.19995067C>T	NCBI36
NG_008718.1:g.6938C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.517C>T MANE Select	ENSP00000216714.3:p.Pro173Ser
ENST00000216714.7:c.517C>T	ENSP00000216714.3:p.Pro173Ser
ENST00000398030.8:c.517C>T	ENSP00000381111.4:p.Pro173Ser
ENST00000438886.1:c.297C>T
ENST00000553555.5:n.937C>T
ENST00000553681.5:c.517C>T	ENSP00000451327.1:p.Pro173Ser
ENST00000554813.5:n.583C>T
ENST00000555414.5:c.517C>T	ENSP00000451979.1:p.Pro173Ser
ENST00000555839.5:c.440-10C>T	ENSP00000452460.1:n.440-10C>T
ENST00000556054.5:c.517C>T	ENSP00000451170.1:p.Pro173Ser
ENST00000557054.1:c.28-55C>T	ENSP00000452212.2:n.28-55C>T
ENST00000557150.5:c.466C>T	ENSP00000452418.1:p.Pro156Ser
ENST00000557159.5:n.1133C>T
ENST00000557365.1:n.597C>T
ENST00000557592.5:c.466C>T	ENSP00000451060.1:p.Pro156Ser
NM_001244249.1:c.517C>T	NP_001231178.1:p.Pro173Ser
NM_001641.3:c.517C>T	NP_001632.2:p.Pro173Ser
NM_080648.2:c.517C>T	NP_542379.1:p.Pro173Ser
NM_080649.2:c.517C>T	NP_542380.1:p.Pro173Ser
XM_005267581.3:c.517C>T	XP_005267638.1:p.Pro173Ser
XM_005267582.3:c.466C>T	XP_005267639.1:p.Pro156Ser
NM_001641.4:c.517C>T MANE Select	NP_001632.2:p.Pro173Ser
NM_001244249.2:c.517C>T	NP_001231178.1:p.Pro173Ser
NM_080648.3:c.517C>T	NP_542379.1:p.Pro173Ser
NM_080649.3:c.517C>T	NP_542380.1:p.Pro173Ser