Canonical Allele Identifier: CA389131839

Gene: APEX1

Linked Data

• dbSNP Id: rs1349791106
• gnomAD v4: 14-20457053-G-C
• MyVariant Identifiers: chr14:g.20925212G>C (hg19) ; chr14:g.20457053G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457053G>C , CM000676.2:g.20457053G>C	GRCh38
NC_000014.8:g.20925212G>C , CM000676.1:g.20925212G>C	GRCh37
NC_000014.7:g.19995052G>C	NCBI36
NG_008718.1:g.6923G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.502G>C MANE Select	ENSP00000216714.3:p.Val168Leu
ENST00000216714.7:c.502G>C	ENSP00000216714.3:p.Val168Leu
ENST00000398030.8:c.502G>C	ENSP00000381111.4:p.Val168Leu
ENST00000438886.1:c.289-7G>C
ENST00000553555.5:n.922G>C
ENST00000553681.5:c.502G>C	ENSP00000451327.1:p.Val168Leu
ENST00000554813.5:n.568G>C
ENST00000555414.5:c.502G>C	ENSP00000451979.1:p.Val168Leu
ENST00000555839.5:c.440-25G>C	ENSP00000452460.1:n.440-25G>C
ENST00000556054.5:c.502G>C	ENSP00000451170.1:p.Val168Leu
ENST00000557054.1:c.28-70G>C	ENSP00000452212.2:n.28-70G>C
ENST00000557150.5:c.451G>C	ENSP00000452418.1:p.Val151Leu
ENST00000557159.5:n.1118G>C
ENST00000557365.1:n.582G>C
ENST00000557592.5:c.451G>C	ENSP00000451060.1:p.Val151Leu
NM_001244249.1:c.502G>C	NP_001231178.1:p.Val168Leu
NM_001641.3:c.502G>C	NP_001632.2:p.Val168Leu
NM_080648.2:c.502G>C	NP_542379.1:p.Val168Leu
NM_080649.2:c.502G>C	NP_542380.1:p.Val168Leu
XM_005267581.3:c.502G>C	XP_005267638.1:p.Val168Leu
XM_005267582.3:c.451G>C	XP_005267639.1:p.Val151Leu
NM_001641.4:c.502G>C MANE Select	NP_001632.2:p.Val168Leu
NM_001244249.2:c.502G>C	NP_001231178.1:p.Val168Leu
NM_080648.3:c.502G>C	NP_542379.1:p.Val168Leu
NM_080649.3:c.502G>C	NP_542380.1:p.Val168Leu