Canonical Allele Identifier: CA7081619

Gene: APEX1

Linked Data

• dbSNP Id: rs755440221
• ExAC: 14:20925363 T / C
• gnomAD v2: 14-20925363-T-C
• gnomAD v3: 14-20457204-T-C
• gnomAD v4: 14-20457204-T-C
• MyVariant Identifiers: chr14:g.20925363T>C (hg19) ; chr14:g.20457204T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457204T>C , CM000676.2:g.20457204T>C	GRCh38
NC_000014.8:g.20925363T>C , CM000676.1:g.20925363T>C	GRCh37
NC_000014.7:g.19995203T>C	NCBI36
NG_008718.1:g.7074T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.653T>C MANE Select	ENSP00000216714.3:p.Ile218Thr
ENST00000216714.7:c.653T>C	ENSP00000216714.3:p.Ile218Thr
ENST00000398030.8:c.653T>C	ENSP00000381111.4:p.Ile218Thr
ENST00000438886.1:c.433T>C
ENST00000553555.5:n.1073T>C
ENST00000553681.5:c.653T>C	ENSP00000451327.1:p.Ile218Thr
ENST00000555414.5:c.653T>C	ENSP00000451979.1:p.Ile218Thr
ENST00000555839.5:c.566T>C	ENSP00000452460.1:p.Ile189Thr
ENST00000557054.1:c.*64T>C	ENSP00000452212.2:n.*64T>C
ENST00000557159.5:n.1269T>C
ENST00000557365.1:n.733T>C
NM_001244249.1:c.653T>C	NP_001231178.1:p.Ile218Thr
NM_001641.3:c.653T>C	NP_001632.2:p.Ile218Thr
NM_080648.2:c.653T>C	NP_542379.1:p.Ile218Thr
NM_080649.2:c.653T>C	NP_542380.1:p.Ile218Thr
XM_005267581.3:c.653T>C	XP_005267638.1:p.Ile218Thr
XM_005267582.3:c.602T>C	XP_005267639.1:p.Ile201Thr
NM_001641.4:c.653T>C MANE Select	NP_001632.2:p.Ile218Thr
NM_001244249.2:c.653T>C	NP_001231178.1:p.Ile218Thr
NM_080648.3:c.653T>C	NP_542379.1:p.Ile218Thr
NM_080649.3:c.653T>C	NP_542380.1:p.Ile218Thr