Canonical Allele Identifier: CA411366248

Gene: APOL1

Linked Data

• dbSNP Id: rs202184759
• gnomAD v4: 22-36265176-G-C
• MyVariant Identifiers: chr22:g.36661222G>C (hg19) ; chr22:g.36265176G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36265176G>C , CM000684.2:g.36265176G>C	GRCh38
NC_000022.10:g.36661222G>C , CM000684.1:g.36661222G>C	GRCh37
NC_000022.9:g.34991168G>C	NCBI36
NG_023228.1:g.17106G>C , LRG_169:g.17106G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427990.6:c.340G>C	ENSP00000391302.2:p.Ala114Pro
ENST00000433768.6:c.*102G>C	ENSP00000392514.1:n.*102G>C
ENST00000438034.6:c.427G>C	ENSP00000404525.2:p.Ala143Pro
ENST00000397278.8:c.340G>C MANE Select	ENSP00000380448.4:p.Ala114Pro
ENST00000319136.8:c.388G>C	ENSP00000317674.4:p.Ala130Pro
ENST00000397278.7:c.340G>C	ENSP00000380448.3:p.Ala114Pro
ENST00000397279.8:c.340G>C	ENSP00000380449.4:p.Ala114Pro
ENST00000422706.5:c.340G>C	ENSP00000411507.1:p.Ala114Pro
ENST00000426053.5:c.286G>C	ENSP00000388477.1:p.Ala96Pro
ENST00000427990.5:c.340G>C	ENSP00000391302.1:p.Ala114Pro
NM_001136540.1:c.340G>C	NP_001130012.1:p.Ala114Pro
NM_001136541.1:c.286G>C	NP_001130013.1:p.Ala96Pro
NM_003661.3:c.340G>C	NP_003652.2:p.Ala114Pro
NM_145343.2:c.388G>C , LRG_169t1:c.388G>C	NP_663318.1:p.Ala130Pro
XM_005261796.2:c.286G>C	XP_005261853.1:p.Ala96Pro
XM_011530478.1:c.-24G>C	XP_011528780.1:n.-24G>C
NM_001362927.1:c.286G>C	NP_001349856.1:p.Ala96Pro
XM_011530478.2:c.-24G>C	XP_011528780.1:n.-24G>C
NM_001362927.2:c.286G>C	NP_001349856.1:p.Ala96Pro
NM_003661.4:c.340G>C MANE Select	NP_003652.2:p.Ala114Pro
NM_001136540.2:c.340G>C	NP_001130012.1:p.Ala114Pro
NM_001136541.2:c.286G>C	NP_001130013.1:p.Ala96Pro
NM_145343.3:c.388G>C	NP_663318.1:p.Ala130Pro