Canonical Allele Identifier: CA389131912

Gene: APEX1

Linked Data

• gnomAD v4: 14-20457066-T-C
• MyVariant Identifiers: chr14:g.20925225T>C (hg19) ; chr14:g.20457066T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457066T>C , CM000676.2:g.20457066T>C	GRCh38
NC_000014.8:g.20925225T>C , CM000676.1:g.20925225T>C	GRCh37
NC_000014.7:g.19995065T>C	NCBI36
NG_008718.1:g.6936T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.515T>C MANE Select	ENSP00000216714.3:p.Val172Ala
ENST00000216714.7:c.515T>C	ENSP00000216714.3:p.Val172Ala
ENST00000398030.8:c.515T>C	ENSP00000381111.4:p.Val172Ala
ENST00000438886.1:c.295T>C
ENST00000553555.5:n.935T>C
ENST00000553681.5:c.515T>C	ENSP00000451327.1:p.Val172Ala
ENST00000554813.5:n.581T>C
ENST00000555414.5:c.515T>C	ENSP00000451979.1:p.Val172Ala
ENST00000555839.5:c.440-12T>C	ENSP00000452460.1:n.440-12T>C
ENST00000556054.5:c.515T>C	ENSP00000451170.1:p.Val172Ala
ENST00000557054.1:c.28-57T>C	ENSP00000452212.2:n.28-57T>C
ENST00000557150.5:c.464T>C	ENSP00000452418.1:p.Val155Ala
ENST00000557159.5:n.1131T>C
ENST00000557365.1:n.595T>C
ENST00000557592.5:c.464T>C	ENSP00000451060.1:p.Val155Ala
NM_001244249.1:c.515T>C	NP_001231178.1:p.Val172Ala
NM_001641.3:c.515T>C	NP_001632.2:p.Val172Ala
NM_080648.2:c.515T>C	NP_542379.1:p.Val172Ala
NM_080649.2:c.515T>C	NP_542380.1:p.Val172Ala
XM_005267581.3:c.515T>C	XP_005267638.1:p.Val172Ala
XM_005267582.3:c.464T>C	XP_005267639.1:p.Val155Ala
NM_001641.4:c.515T>C MANE Select	NP_001632.2:p.Val172Ala
NM_001244249.2:c.515T>C	NP_001231178.1:p.Val172Ala
NM_080648.3:c.515T>C	NP_542379.1:p.Val172Ala
NM_080649.3:c.515T>C	NP_542380.1:p.Val172Ala