Canonical Allele Identifier: CA411366433

Gene: APOL1

Linked Data

• dbSNP Id: rs1603482247
• MyVariant Identifiers: chr22:g.36661298G>T (hg19) ; chr22:g.36265252G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36265252G>T , CM000684.2:g.36265252G>T	GRCh38
NC_000022.10:g.36661298G>T , CM000684.1:g.36661298G>T	GRCh37
NC_000022.9:g.34991244G>T	NCBI36
NG_023228.1:g.17182G>T , LRG_169:g.17182G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427990.6:c.416G>T	ENSP00000391302.2:p.Trp139Leu
ENST00000433768.6:c.*178G>T	ENSP00000392514.1:n.*178G>T
ENST00000438034.6:c.503G>T	ENSP00000404525.2:p.Trp168Leu
ENST00000397278.8:c.416G>T MANE Select	ENSP00000380448.4:p.Trp139Leu
ENST00000319136.8:c.464G>T	ENSP00000317674.4:p.Trp155Leu
ENST00000397278.7:c.416G>T	ENSP00000380448.3:p.Trp139Leu
ENST00000397279.8:c.416G>T	ENSP00000380449.4:p.Trp139Leu
ENST00000422706.5:c.416G>T	ENSP00000411507.1:p.Trp139Leu
ENST00000426053.5:c.362G>T	ENSP00000388477.1:p.Trp121Leu
ENST00000427990.5:c.416G>T	ENSP00000391302.1:p.Trp139Leu
NM_001136540.1:c.416G>T	NP_001130012.1:p.Trp139Leu
NM_001136541.1:c.362G>T	NP_001130013.1:p.Trp121Leu
NM_003661.3:c.416G>T	NP_003652.2:p.Trp139Leu
NM_145343.2:c.464G>T , LRG_169t1:c.464G>T	NP_663318.1:p.Trp155Leu
XM_005261796.2:c.362G>T	XP_005261853.1:p.Trp121Leu
XM_011530478.1:c.53G>T	XP_011528780.1:p.Trp18Leu
NM_001362927.1:c.362G>T	NP_001349856.1:p.Trp121Leu
XM_011530478.2:c.53G>T	XP_011528780.1:p.Trp18Leu
NM_001362927.2:c.362G>T	NP_001349856.1:p.Trp121Leu
NM_003661.4:c.416G>T MANE Select	NP_003652.2:p.Trp139Leu
NM_001136540.2:c.416G>T	NP_001130012.1:p.Trp139Leu
NM_001136541.2:c.362G>T	NP_001130013.1:p.Trp121Leu
NM_145343.3:c.464G>T	NP_663318.1:p.Trp155Leu