Canonical Allele Identifier: CA323579554

Gene: APOL1

Linked Data

• dbSNP Id: rs367662496
• MyVariant Identifiers: chr22:g.36661274A>T (hg19) ; chr22:g.36265228A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36265228A>T , CM000684.2:g.36265228A>T	GRCh38
NC_000022.10:g.36661274A>T , CM000684.1:g.36661274A>T	GRCh37
NC_000022.9:g.34991220A>T	NCBI36
NG_023228.1:g.17158A>T , LRG_169:g.17158A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427990.6:c.392A>T	ENSP00000391302.2:p.Asp131Val
ENST00000433768.6:c.*154A>T	ENSP00000392514.1:n.*154A>T
ENST00000438034.6:c.479A>T	ENSP00000404525.2:p.Asp160Val
ENST00000397278.8:c.392A>T MANE Select	ENSP00000380448.4:p.Asp131Val
ENST00000319136.8:c.440A>T	ENSP00000317674.4:p.Asp147Val
ENST00000397278.7:c.392A>T	ENSP00000380448.3:p.Asp131Val
ENST00000397279.8:c.392A>T	ENSP00000380449.4:p.Asp131Val
ENST00000422706.5:c.392A>T	ENSP00000411507.1:p.Asp131Val
ENST00000426053.5:c.338A>T	ENSP00000388477.1:p.Asp113Val
ENST00000427990.5:c.392A>T	ENSP00000391302.1:p.Asp131Val
NM_001136540.1:c.392A>T	NP_001130012.1:p.Asp131Val
NM_001136541.1:c.338A>T	NP_001130013.1:p.Asp113Val
NM_003661.3:c.392A>T	NP_003652.2:p.Asp131Val
NM_145343.2:c.440A>T , LRG_169t1:c.440A>T	NP_663318.1:p.Asp147Val
XM_005261796.2:c.338A>T	XP_005261853.1:p.Asp113Val
XM_011530478.1:c.29A>T	XP_011528780.1:p.Asp10Val
NM_001362927.1:c.338A>T	NP_001349856.1:p.Asp113Val
XM_011530478.2:c.29A>T	XP_011528780.1:p.Asp10Val
NM_001362927.2:c.338A>T	NP_001349856.1:p.Asp113Val
NM_003661.4:c.392A>T MANE Select	NP_003652.2:p.Asp131Val
NM_001136540.2:c.392A>T	NP_001130012.1:p.Asp131Val
NM_001136541.2:c.338A>T	NP_001130013.1:p.Asp113Val
NM_145343.3:c.440A>T	NP_663318.1:p.Asp147Val