Canonical Allele Identifier: CA10208734

Gene: APOL1

Linked Data

• ClinVar Variation Id: 1170849
• ClinVar RCV Id: RCV001523573 ; RCV003980637
• dbSNP Id: rs136175
• ExAC: 22:36661566 G / A
• gnomAD v2: 22-36661566-G-A
• gnomAD v3: 22-36265520-G-A
• gnomAD v4: 22-36265520-G-A
• MyVariant Identifiers: chr22:g.36661566G>A (hg19) ; chr22:g.36265520G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36265520G>A , CM000684.2:g.36265520G>A	GRCh38
NC_000022.10:g.36661566G>A , CM000684.1:g.36661566G>A	GRCh37
NC_000022.9:g.34991512G>A	NCBI36
NG_023228.1:g.17450G>A , LRG_169:g.17450G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000427990.6:c.684G>A	ENSP00000391302.2:p.Met228Ile
ENST00000433768.6:c.*446G>A	ENSP00000392514.1:n.*446G>A
ENST00000438034.6:c.771G>A	ENSP00000404525.2:p.Met257Ile
ENST00000397278.8:c.684G>A MANE Select	ENSP00000380448.4:p.Met228Ile
ENST00000319136.8:c.732G>A	ENSP00000317674.4:p.Met244Ile
ENST00000397278.7:c.684G>A	ENSP00000380448.3:p.Met228Ile
ENST00000397279.8:c.684G>A	ENSP00000380449.4:p.Met228Ile
ENST00000422706.5:c.684G>A	ENSP00000411507.1:p.Met228Ile
ENST00000426053.5:c.630G>A	ENSP00000388477.1:p.Met210Ile
NM_001136540.1:c.684G>A	NP_001130012.1:p.Met228Ile
NM_001136541.1:c.630G>A	NP_001130013.1:p.Met210Ile
NM_003661.3:c.684G>A	NP_003652.2:p.Met228Ile
NM_145343.2:c.732G>A , LRG_169t1:c.732G>A	NP_663318.1:p.Met244Ile
XM_005261796.2:c.630G>A	XP_005261853.1:p.Met210Ile
XM_011530478.1:c.321G>A	XP_011528780.1:p.Met107Ile
NM_001362927.1:c.630G>A	NP_001349856.1:p.Met210Ile
XM_011530478.2:c.321G>A	XP_011528780.1:p.Met107Ile
NM_001362927.2:c.630G>A	NP_001349856.1:p.Met210Ile
NM_003661.4:c.684G>A MANE Select	NP_003652.2:p.Met228Ile
NM_001136540.2:c.684G>A	NP_001130012.1:p.Met228Ile
NM_001136541.2:c.630G>A	NP_001130013.1:p.Met210Ile
NM_145343.3:c.732G>A	NP_663318.1:p.Met244Ile