Canonical Allele Identifier: CA257407806

Gene: APEX1

Linked Data

• dbSNP Id: rs1057297039
• gnomAD v3: 14-20457147-T-C
• gnomAD v4: 14-20457147-T-C
• MyVariant Identifiers: chr14:g.20925306T>C (hg19) ; chr14:g.20457147T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457147T>C , CM000676.2:g.20457147T>C	GRCh38
NC_000014.8:g.20925306T>C , CM000676.1:g.20925306T>C	GRCh37
NC_000014.7:g.19995146T>C	NCBI36
NG_008718.1:g.7017T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.596T>C MANE Select	ENSP00000216714.3:p.Leu199Pro
ENST00000216714.7:c.596T>C	ENSP00000216714.3:p.Leu199Pro
ENST00000398030.8:c.596T>C	ENSP00000381111.4:p.Leu199Pro
ENST00000438886.1:c.376T>C
ENST00000553555.5:n.1016T>C
ENST00000553681.5:c.596T>C	ENSP00000451327.1:p.Leu199Pro
ENST00000555414.5:c.596T>C	ENSP00000451979.1:p.Leu199Pro
ENST00000555839.5:c.509T>C	ENSP00000452460.1:p.Leu170Pro
ENST00000557054.1:c.*7T>C	ENSP00000452212.2:n.*7T>C
ENST00000557159.5:n.1212T>C
ENST00000557365.1:n.676T>C
NM_001244249.1:c.596T>C	NP_001231178.1:p.Leu199Pro
NM_001641.3:c.596T>C	NP_001632.2:p.Leu199Pro
NM_080648.2:c.596T>C	NP_542379.1:p.Leu199Pro
NM_080649.2:c.596T>C	NP_542380.1:p.Leu199Pro
XM_005267581.3:c.596T>C	XP_005267638.1:p.Leu199Pro
XM_005267582.3:c.545T>C	XP_005267639.1:p.Leu182Pro
NM_001641.4:c.596T>C MANE Select	NP_001632.2:p.Leu199Pro
NM_001244249.2:c.596T>C	NP_001231178.1:p.Leu199Pro
NM_080648.3:c.596T>C	NP_542379.1:p.Leu199Pro
NM_080649.3:c.596T>C	NP_542380.1:p.Leu199Pro