Canonical Allele Identifier: CA411366517

Gene: APOL1

Linked Data

• MyVariant Identifiers: chr22:g.36661334T>G (hg19) ; chr22:g.36265288T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36265288T>G , CM000684.2:g.36265288T>G	GRCh38
NC_000022.10:g.36661334T>G , CM000684.1:g.36661334T>G	GRCh37
NC_000022.9:g.34991280T>G	NCBI36
NG_023228.1:g.17218T>G , LRG_169:g.17218T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427990.6:c.452T>G	ENSP00000391302.2:p.Leu151Arg
ENST00000433768.6:c.*214T>G	ENSP00000392514.1:n.*214T>G
ENST00000438034.6:c.539T>G	ENSP00000404525.2:p.Leu180Arg
ENST00000397278.8:c.452T>G MANE Select	ENSP00000380448.4:p.Leu151Arg
ENST00000319136.8:c.500T>G	ENSP00000317674.4:p.Leu167Arg
ENST00000397278.7:c.452T>G	ENSP00000380448.3:p.Leu151Arg
ENST00000397279.8:c.452T>G	ENSP00000380449.4:p.Leu151Arg
ENST00000422706.5:c.452T>G	ENSP00000411507.1:p.Leu151Arg
ENST00000426053.5:c.398T>G	ENSP00000388477.1:p.Leu133Arg
ENST00000427990.5:c.452T>G	ENSP00000391302.1:p.Leu151Arg
NM_001136540.1:c.452T>G	NP_001130012.1:p.Leu151Arg
NM_001136541.1:c.398T>G	NP_001130013.1:p.Leu133Arg
NM_003661.3:c.452T>G	NP_003652.2:p.Leu151Arg
NM_145343.2:c.500T>G , LRG_169t1:c.500T>G	NP_663318.1:p.Leu167Arg
XM_005261796.2:c.398T>G	XP_005261853.1:p.Leu133Arg
XM_011530478.1:c.89T>G	XP_011528780.1:p.Leu30Arg
NM_001362927.1:c.398T>G	NP_001349856.1:p.Leu133Arg
XM_011530478.2:c.89T>G	XP_011528780.1:p.Leu30Arg
NM_001362927.2:c.398T>G	NP_001349856.1:p.Leu133Arg
NM_003661.4:c.452T>G MANE Select	NP_003652.2:p.Leu151Arg
NM_001136540.2:c.452T>G	NP_001130012.1:p.Leu151Arg
NM_001136541.2:c.398T>G	NP_001130013.1:p.Leu133Arg
NM_145343.3:c.500T>G	NP_663318.1:p.Leu167Arg