Canonical Allele Identifier: CA389133064

Gene: APEX1

Linked Data

• gnomAD v4: 14-20457252-C-T
• MyVariant Identifiers: chr14:g.20925411C>T (hg19) ; chr14:g.20457252C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457252C>T , CM000676.2:g.20457252C>T	GRCh38
NC_000014.8:g.20925411C>T , CM000676.1:g.20925411C>T	GRCh37
NC_000014.7:g.19995251C>T	NCBI36
NG_008718.1:g.7122C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.701C>T MANE Select	ENSP00000216714.3:p.Pro234Leu
ENST00000216714.7:c.701C>T	ENSP00000216714.3:p.Pro234Leu
ENST00000398030.8:c.701C>T	ENSP00000381111.4:p.Pro234Leu
ENST00000553555.5:n.1121C>T
ENST00000553681.5:c.701C>T	ENSP00000451327.1:p.Pro234Leu
ENST00000555414.5:c.701C>T	ENSP00000451979.1:p.Pro234Leu
ENST00000555839.5:c.614C>T	ENSP00000452460.1:p.Pro205Leu
ENST00000557054.1:c.*112C>T	ENSP00000452212.2:n.*112C>T
ENST00000557159.5:n.1317C>T
ENST00000557365.1:n.781C>T
NM_001244249.1:c.701C>T	NP_001231178.1:p.Pro234Leu
NM_001641.3:c.701C>T	NP_001632.2:p.Pro234Leu
NM_080648.2:c.701C>T	NP_542379.1:p.Pro234Leu
NM_080649.2:c.701C>T	NP_542380.1:p.Pro234Leu
XM_005267581.3:c.701C>T	XP_005267638.1:p.Pro234Leu
XM_005267582.3:c.650C>T	XP_005267639.1:p.Pro217Leu
NM_001641.4:c.701C>T MANE Select	NP_001632.2:p.Pro234Leu
NM_001244249.2:c.701C>T	NP_001231178.1:p.Pro234Leu
NM_080648.3:c.701C>T	NP_542379.1:p.Pro234Leu
NM_080649.3:c.701C>T	NP_542380.1:p.Pro234Leu