Canonical Allele Identifier: CA389130316

Gene: APEX1

Linked Data

• MyVariant Identifiers: chr14:g.20924828G>C (hg19) ; chr14:g.20456669G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456669G>C , CM000676.2:g.20456669G>C	GRCh38
NC_000014.8:g.20924828G>C , CM000676.1:g.20924828G>C	GRCh37
NC_000014.7:g.19994668G>C	NCBI36
NG_008718.1:g.6539G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.248G>C MANE Select	ENSP00000216714.3:p.Trp83Ser
ENST00000216714.7:c.248G>C	ENSP00000216714.3:p.Trp83Ser
ENST00000398030.8:c.248G>C	ENSP00000381111.4:p.Trp83Ser
ENST00000438886.1:c.97G>C
ENST00000553555.5:n.668G>C
ENST00000553681.5:c.248G>C	ENSP00000451327.1:p.Trp83Ser
ENST00000554325.1:c.*168G>C	ENSP00000450604.1:n.*168G>C
ENST00000554813.5:n.314G>C
ENST00000555306.5:n.695G>C
ENST00000555414.5:c.248G>C	ENSP00000451979.1:p.Trp83Ser
ENST00000555839.5:c.248G>C	ENSP00000452460.1:p.Trp83Ser
ENST00000556054.5:c.248G>C	ENSP00000451170.1:p.Trp83Ser
ENST00000557054.1:c.28-454G>C	ENSP00000452212.2:n.28-454G>C
ENST00000557150.5:c.197G>C	ENSP00000452418.1:p.Trp66Ser
ENST00000557159.5:n.864G>C
ENST00000557181.5:c.248G>C	ENSP00000452304.1:p.Trp83Ser
ENST00000557344.5:c.248G>C	ENSP00000452137.1:p.Trp83Ser
ENST00000557365.1:n.328G>C
ENST00000557592.5:c.197G>C	ENSP00000451060.1:p.Trp66Ser
NM_001244249.1:c.248G>C	NP_001231178.1:p.Trp83Ser
NM_001641.3:c.248G>C	NP_001632.2:p.Trp83Ser
NM_080648.2:c.248G>C	NP_542379.1:p.Trp83Ser
NM_080649.2:c.248G>C	NP_542380.1:p.Trp83Ser
XM_005267581.3:c.248G>C	XP_005267638.1:p.Trp83Ser
XM_005267582.3:c.197G>C	XP_005267639.1:p.Trp66Ser
NM_001641.4:c.248G>C MANE Select	NP_001632.2:p.Trp83Ser
NM_001244249.2:c.248G>C	NP_001231178.1:p.Trp83Ser
NM_080648.3:c.248G>C	NP_542379.1:p.Trp83Ser
NM_080649.3:c.248G>C	NP_542380.1:p.Trp83Ser