Canonical Allele Identifier: CA1883862714
Community Standard Title: NM_020822.3(KCNT1):c.841C= (p.Leu281=)
Gene: KCNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135758495C= , CM000671.2:g.135758495C= GRCh38
NC_000009.11:g.138650341C= , CM000671.1:g.138650341C= GRCh37
NC_000009.10:g.137790162C= NCBI36
NG_033070.1:g.61311C=

Transcript Alleles

HGVS Amino-acid Change
NM_020822.3:c.841C= MANE Select NP_065873.2:p.Leu281=
ENST00000371757.7:c.841C= MANE Select ENSP00000360822.2:p.Leu281=
NM_001272003.1:c.697C= NP_001258932.1:p.Leu233=
NM_001272003.2:c.697C= NP_001258932.1:p.Leu233=
NM_020822.2:c.841C= NP_065873.2:p.Leu281=
ENST00000263604.5:c.742C= ENSP00000263604.4:p.Leu248=
ENST00000371757.6:c.841C= ENSP00000360822.2:p.Leu281=
ENST00000460750.5:c.*451C= ENSP00000418777.1:n.*451C=
ENST00000473941.5:c.682C= ENSP00000420764.1:p.Leu228=
ENST00000486577.6:c.724C= ENSP00000417578.3:p.Leu242=
ENST00000487664.5:c.841C= ENSP00000417851.2:p.Leu281=
ENST00000488444.6:c.784C= ENSP00000419007.3:p.Leu262=
ENST00000490355.6:c.784C= ENSP00000418003.3:p.Leu262=
ENST00000490363.3:n.660C=
ENST00000491806.6:c.784C= ENSP00000419086.3:p.Leu262=
ENST00000628528.2:c.697C= ENSP00000486374.1:p.Leu233=
ENST00000630792.2:c.682C= ENSP00000486486.1:p.Leu228=
ENST00000631073.2:c.784C= ENSP00000486130.1:p.Leu262=
ENST00000674572.1:c.682C= ENSP00000501742.1:p.Leu228=
ENST00000675090.1:c.589C= ENSP00000501833.1:p.Leu197=
ENST00000675399.1:c.589C= ENSP00000501932.1:p.Leu197=
ENST00000676421.1:c.589C= ENSP00000502322.1:p.Leu197=
XM_011518877.1:c.976C= XP_011517179.1:p.Leu326=
XM_011518877.3:c.976C= XP_011517179.1:p.Leu326=
XM_011518878.1:c.976C= XP_011517180.1:p.Leu326=
XM_011518878.3:c.976C= XP_011517180.1:p.Leu326=
XM_011518879.1:c.976C= XP_011517181.1:p.Leu326=
XM_011518879.3:c.976C= XP_011517181.1:p.Leu326=
XM_011518880.1:c.742C= XP_011517182.1:p.Leu248=
XM_011518881.1:c.322C= XP_011517183.1:p.Leu108=
XM_011518881.3:c.322C= XP_011517183.1:p.Leu108=
XM_017014931.1:c.766C= XP_016870420.1:p.Leu256=
XM_017014932.1:c.589C= XP_016870421.1:p.Leu197=
XM_017014933.1:c.322C= XP_016870422.1:p.Leu108=
XM_024447617.1:c.322C= XP_024303385.1:p.Leu108=
XM_024447618.1:c.322C= XP_024303386.1:p.Leu108=