Canonical Allele Identifier: CA10208666

Gene: APOL1

Linked Data

• dbSNP Id: rs773763181
• ExAC: 22:36661253 T / C
• gnomAD v2: 22-36661253-T-C
• gnomAD v4: 22-36265207-T-C
• COSMIC: COSM5187606
• MyVariant Identifiers: chr22:g.36661253T>C (hg19) ; chr22:g.36265207T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36265207T>C , CM000684.2:g.36265207T>C	GRCh38
NC_000022.10:g.36661253T>C , CM000684.1:g.36661253T>C	GRCh37
NC_000022.9:g.34991199T>C	NCBI36
NG_023228.1:g.17137T>C , LRG_169:g.17137T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427990.6:c.371T>C	ENSP00000391302.2:p.Met124Thr
ENST00000433768.6:c.*133T>C	ENSP00000392514.1:n.*133T>C
ENST00000438034.6:c.458T>C	ENSP00000404525.2:p.Met153Thr
ENST00000397278.8:c.371T>C MANE Select	ENSP00000380448.4:p.Met124Thr
ENST00000319136.8:c.419T>C	ENSP00000317674.4:p.Met140Thr
ENST00000397278.7:c.371T>C	ENSP00000380448.3:p.Met124Thr
ENST00000397279.8:c.371T>C	ENSP00000380449.4:p.Met124Thr
ENST00000422706.5:c.371T>C	ENSP00000411507.1:p.Met124Thr
ENST00000426053.5:c.317T>C	ENSP00000388477.1:p.Met106Thr
ENST00000427990.5:c.371T>C	ENSP00000391302.1:p.Met124Thr
NM_001136540.1:c.371T>C	NP_001130012.1:p.Met124Thr
NM_001136541.1:c.317T>C	NP_001130013.1:p.Met106Thr
NM_003661.3:c.371T>C	NP_003652.2:p.Met124Thr
NM_145343.2:c.419T>C , LRG_169t1:c.419T>C	NP_663318.1:p.Met140Thr
XM_005261796.2:c.317T>C	XP_005261853.1:p.Met106Thr
XM_011530478.1:c.8T>C	XP_011528780.1:p.Met3Thr
NM_001362927.1:c.317T>C	NP_001349856.1:p.Met106Thr
XM_011530478.2:c.8T>C	XP_011528780.1:p.Met3Thr
NM_001362927.2:c.317T>C	NP_001349856.1:p.Met106Thr
NM_003661.4:c.371T>C MANE Select	NP_003652.2:p.Met124Thr
NM_001136540.2:c.371T>C	NP_001130012.1:p.Met124Thr
NM_001136541.2:c.317T>C	NP_001130013.1:p.Met106Thr
NM_145343.3:c.419T>C	NP_663318.1:p.Met140Thr