Canonical Allele Identifier: CA411366313
Gene: APOL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36265204T>G , CM000684.2:g.36265204T>G GRCh38
NC_000022.10:g.36661250T>G , CM000684.1:g.36661250T>G GRCh37
NC_000022.9:g.34991196T>G NCBI36
NG_023228.1:g.17134T>G , LRG_169:g.17134T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000427990.6:c.368T>G ENSP00000391302.2:p.Ile123Ser
ENST00000433768.6:c.*130T>G ENSP00000392514.1:n.*130T>G
ENST00000438034.6:c.455T>G ENSP00000404525.2:p.Ile152Ser
ENST00000397278.8:c.368T>G MANE Select ENSP00000380448.4:p.Ile123Ser
ENST00000319136.8:c.416T>G ENSP00000317674.4:p.Ile139Ser
ENST00000397278.7:c.368T>G ENSP00000380448.3:p.Ile123Ser
ENST00000397279.8:c.368T>G ENSP00000380449.4:p.Ile123Ser
ENST00000422706.5:c.368T>G ENSP00000411507.1:p.Ile123Ser
ENST00000426053.5:c.314T>G ENSP00000388477.1:p.Ile105Ser
ENST00000427990.5:c.368T>G ENSP00000391302.1:p.Ile123Ser
NM_001136540.1:c.368T>G NP_001130012.1:p.Ile123Ser
NM_001136541.1:c.314T>G NP_001130013.1:p.Ile105Ser
NM_003661.3:c.368T>G NP_003652.2:p.Ile123Ser
NM_145343.2:c.416T>G , LRG_169t1:c.416T>G NP_663318.1:p.Ile139Ser
XM_005261796.2:c.314T>G XP_005261853.1:p.Ile105Ser
XM_011530478.1:c.5T>G XP_011528780.1:p.Ile2Ser
NM_001362927.1:c.314T>G NP_001349856.1:p.Ile105Ser
XM_011530478.2:c.5T>G XP_011528780.1:p.Ile2Ser
NM_001362927.2:c.314T>G NP_001349856.1:p.Ile105Ser
NM_003661.4:c.368T>G MANE Select NP_003652.2:p.Ile123Ser
NM_001136540.2:c.368T>G NP_001130012.1:p.Ile123Ser
NM_001136541.2:c.314T>G NP_001130013.1:p.Ile105Ser
NM_145343.3:c.416T>G NP_663318.1:p.Ile139Ser