Canonical Allele Identifier: CA514472707

Gene: APOL1

Linked Data

• gnomAD v4: 22-36265166-G-A
• COSMIC: COSM6450793
• MyVariant Identifiers: chr22:g.36661212G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36265166G>A , CM000684.2:g.36265166G>A	GRCh38
NC_000022.10:g.36661212G>A , CM000684.1:g.36661212G>A	GRCh37
NC_000022.9:g.34991158G>A	NCBI36
NG_023228.1:g.17096G>A , LRG_169:g.17096G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427990.6:c.330G>A	ENSP00000391302.2:p.Glu110=
ENST00000433768.6:c.*92G>A	ENSP00000392514.1:n.*92G>A
ENST00000438034.6:c.417G>A	ENSP00000404525.2:p.Glu139=
ENST00000397278.8:c.330G>A MANE Select	ENSP00000380448.4:p.Glu110=
ENST00000319136.8:c.378G>A	ENSP00000317674.4:p.Glu126=
ENST00000397278.7:c.330G>A	ENSP00000380448.3:p.Glu110=
ENST00000397279.8:c.330G>A	ENSP00000380449.4:p.Glu110=
ENST00000422706.5:c.330G>A	ENSP00000411507.1:p.Glu110=
ENST00000426053.5:c.276G>A	ENSP00000388477.1:p.Glu92=
ENST00000427990.5:c.330G>A	ENSP00000391302.1:p.Glu110=
NM_001136540.1:c.330G>A	NP_001130012.1:p.Glu110=
NM_001136541.1:c.276G>A	NP_001130013.1:p.Glu92=
NM_003661.3:c.330G>A	NP_003652.2:p.Glu110=
NM_145343.2:c.378G>A , LRG_169t1:c.378G>A	NP_663318.1:p.Glu126=
XM_005261796.2:c.276G>A	XP_005261853.1:p.Glu92=
XM_011530478.1:c.-34G>A	XP_011528780.1:n.-34G>A
NM_001362927.1:c.276G>A	NP_001349856.1:p.Glu92=
XM_011530478.2:c.-34G>A	XP_011528780.1:n.-34G>A
NM_001362927.2:c.276G>A	NP_001349856.1:p.Glu92=
NM_003661.4:c.330G>A MANE Select	NP_003652.2:p.Glu110=
NM_001136540.2:c.330G>A	NP_001130012.1:p.Glu110=
NM_001136541.2:c.276G>A	NP_001130013.1:p.Glu92=
NM_145343.3:c.378G>A	NP_663318.1:p.Glu126=