Canonical Allele Identifier: CA389132423

Gene: APEX1

Linked Data

• gnomAD v4: 14-20457167-G-T
• MyVariant Identifiers: chr14:g.20925326G>T (hg19) ; chr14:g.20457167G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457167G>T , CM000676.2:g.20457167G>T	GRCh38
NC_000014.8:g.20925326G>T , CM000676.1:g.20925326G>T	GRCh37
NC_000014.7:g.19995166G>T	NCBI36
NG_008718.1:g.7037G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.616G>T MANE Select	ENSP00000216714.3:p.Val206Leu
ENST00000216714.7:c.616G>T	ENSP00000216714.3:p.Val206Leu
ENST00000398030.8:c.616G>T	ENSP00000381111.4:p.Val206Leu
ENST00000438886.1:c.396G>T
ENST00000553555.5:n.1036G>T
ENST00000553681.5:c.616G>T	ENSP00000451327.1:p.Val206Leu
ENST00000555414.5:c.616G>T	ENSP00000451979.1:p.Val206Leu
ENST00000555839.5:c.529G>T	ENSP00000452460.1:p.Val177Leu
ENST00000557054.1:c.*27G>T	ENSP00000452212.2:n.*27G>T
ENST00000557159.5:n.1232G>T
ENST00000557365.1:n.696G>T
NM_001244249.1:c.616G>T	NP_001231178.1:p.Val206Leu
NM_001641.3:c.616G>T	NP_001632.2:p.Val206Leu
NM_080648.2:c.616G>T	NP_542379.1:p.Val206Leu
NM_080649.2:c.616G>T	NP_542380.1:p.Val206Leu
XM_005267581.3:c.616G>T	XP_005267638.1:p.Val206Leu
XM_005267582.3:c.565G>T	XP_005267639.1:p.Val189Leu
NM_001641.4:c.616G>T MANE Select	NP_001632.2:p.Val206Leu
NM_001244249.2:c.616G>T	NP_001231178.1:p.Val206Leu
NM_080648.3:c.616G>T	NP_542379.1:p.Val206Leu
NM_080649.3:c.616G>T	NP_542380.1:p.Val206Leu