Canonical Allele Identifier: CA10192958
Community Standard Title: NM_001007467.3(SFI1):c.191G>T (p.Ser64Ile)
Gene: SFI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.31528788G>T , CM000684.2:g.31528788G>T GRCh38
NC_000022.10:g.31924774G>T , CM000684.1:g.31924774G>T GRCh37
NC_000022.9:g.30254774G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001007467.3:c.191G>T MANE Select NP_001007468.1:p.Ser64Ile
ENST00000400288.7:c.191G>T MANE Select ENSP00000383145.2:p.Ser64Ile
NM_001007467.2:c.191G>T NP_001007468.1:p.Ser64Ile
NM_001258325.1:c.191G>T NP_001245254.1:p.Ser64Ile
NM_001258326.1:c.93-18073G>T NP_001245255.1:n.93-18073G>T
NM_001258326.2:c.93-18073G>T NP_001245255.1:n.93-18073G>T
NM_001258327.1:c.93-18073G>T NP_001245256.1:n.93-18073G>T
NM_001258327.2:c.93-18073G>T NP_001245256.1:n.93-18073G>T
NM_014775.3:c.191G>T NP_055590.2:p.Ser64Ile
NM_014775.4:c.191G>T NP_055590.2:p.Ser64Ile
ENST00000382162.7:n.276G>T
ENST00000400288.6:c.191G>T ENSP00000383145.2:p.Ser64Ile
ENST00000400289.5:c.93-18073G>T ENSP00000383146.1:n.93-18073G>T
ENST00000411518.5:c.191G>T ENSP00000391339.1:p.Ser64Ile
ENST00000432498.5:c.191G>T ENSP00000402679.1:p.Ser64Ile
ENST00000443011.5:c.93-18073G>T ENSP00000401199.1:n.93-18073G>T
ENST00000444859.5:c.191G>T ENSP00000411793.1:p.Ser64Ile
ENST00000450787.1:c.44G>T ENSP00000389364.1:p.Ser15Ile
ENST00000465437.5:n.481G>T
ENST00000465646.5:n.317G>T
ENST00000524296.5:c.191G>T ENSP00000430488.1:p.Ser64Ile
ENST00000540643.5:c.191G>T ENSP00000443025.1:p.Ser64Ile
ENST00000629688.1:c.191G>T ENSP00000485935.1:p.Ser64Ile
XM_005261868.1:c.191G>T XP_005261925.1:p.Ser64Ile
XM_005261868.2:c.191G>T XP_005261925.1:p.Ser64Ile
XM_006724390.1:c.93-18073G>T XP_006724453.1:n.93-18073G>T
XM_006724390.3:c.93-18073G>T XP_006724453.1:n.93-18073G>T
XM_011530570.1:c.191G>T XP_011528872.1:p.Ser64Ile
XM_011530570.2:c.191G>T XP_011528872.1:p.Ser64Ile
XM_011530571.1:c.191G>T XP_011528873.1:p.Ser64Ile
XM_011530571.2:c.191G>T XP_011528873.1:p.Ser64Ile
XM_011530572.1:c.191G>T XP_011528874.1:p.Ser64Ile
XM_011530573.1:c.191G>T XP_011528875.1:p.Ser64Ile
XM_011530574.1:c.191G>T XP_011528876.1:p.Ser64Ile
XM_011530574.3:c.191G>T XP_011528876.1:p.Ser64Ile
XM_011530575.1:c.191G>T XP_011528877.1:p.Ser64Ile
XM_011530575.2:c.191G>T XP_011528877.1:p.Ser64Ile
XM_011530576.1:c.191G>T XP_011528878.1:p.Ser64Ile
XM_011530576.2:c.191G>T XP_011528878.1:p.Ser64Ile
XM_011530577.1:c.191G>T XP_011528879.1:p.Ser64Ile
XM_011530577.2:c.191G>T XP_011528879.1:p.Ser64Ile
XM_011530578.1:c.191G>T XP_011528880.1:p.Ser64Ile
XM_011530579.1:c.191G>T XP_011528881.1:p.Ser64Ile
XM_011530579.3:c.191G>T XP_011528881.1:p.Ser64Ile
XM_011530580.1:c.191G>T XP_011528882.1:p.Ser64Ile
XM_011530580.2:c.191G>T XP_011528882.1:p.Ser64Ile
XM_011530581.1:c.191G>T XP_011528883.1:p.Ser64Ile
XM_011530581.3:c.191G>T XP_011528883.1:p.Ser64Ile
XM_011530582.1:c.93-18073G>T XP_011528884.1:n.93-18073G>T
XM_011530582.2:c.93-18073G>T XP_011528884.1:n.93-18073G>T
XM_011530583.1:c.93-18073G>T XP_011528885.1:n.93-18073G>T
XM_011530583.2:c.93-18073G>T XP_011528885.1:n.93-18073G>T
XM_011530584.1:c.-113G>T XP_011528886.1:n.-113G>T
XM_011530585.1:c.191G>T XP_011528887.1:p.Ser64Ile
XM_011530586.1:c.191G>T XP_011528888.1:p.Ser64Ile
XM_017029139.2:c.191G>T XP_016884628.1:p.Ser64Ile
XM_017029140.1:c.191G>T XP_016884629.1:p.Ser64Ile
XM_017029141.2:c.191G>T XP_016884630.1:p.Ser64Ile
XM_017029142.1:c.191G>T XP_016884631.1:p.Ser64Ile
XM_017029143.1:c.191G>T XP_016884632.1:p.Ser64Ile
XM_017029144.1:c.191G>T XP_016884633.1:p.Ser64Ile
XM_017029145.1:c.191G>T XP_016884634.1:p.Ser64Ile
XM_017029146.2:c.191G>T XP_016884635.1:p.Ser64Ile
XM_017029147.1:c.191G>T XP_016884636.1:p.Ser64Ile
XM_017029148.1:c.191G>T XP_016884637.1:p.Ser64Ile
XM_017029149.2:c.191G>T XP_016884638.1:p.Ser64Ile
XM_017029150.2:c.191G>T XP_016884639.1:p.Ser64Ile
XM_017029151.2:c.191G>T XP_016884640.1:p.Ser64Ile
XM_017029152.1:c.93-18073G>T XP_016884641.1:n.93-18073G>T
XM_017029153.1:c.93-18073G>T XP_016884642.1:n.93-18073G>T
XM_017029154.2:c.191G>T XP_016884643.1:p.Ser64Ile
XM_017029155.1:c.93-18073G>T XP_016884644.1:n.93-18073G>T
XM_017029156.2:c.93-18073G>T XP_016884645.1:n.93-18073G>T
XM_017029158.1:c.191G>T XP_016884647.1:p.Ser64Ile
XM_017029159.2:c.-1009G>T XP_016884648.1:n.-1009G>T
XM_024452308.1:c.191G>T XP_024308076.1:p.Ser64Ile
XM_024452309.1:c.-1486G>T XP_024308077.1:n.-1486G>T
XM_024452310.1:c.-1486G>T XP_024308078.1:n.-1486G>T
XM_024452311.1:c.-1558G>T XP_024308079.1:n.-1558G>T
XR_937978.1:n.570G>T
XR_937979.1:n.570G>T
XR_937980.1:n.570G>T