Canonical Allele Identifier: CA253592
Gene: KRIT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5728
dbSNP Id: rs267607204

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92234451G>T , CM000669.2:g.92234451G>T GRCh38
NC_000007.13:g.91863765G>T , CM000669.1:g.91863765G>T GRCh37
NC_000007.12:g.91701701G>T NCBI36
NG_012964.1:g.16650C>A , LRG_650:g.16650C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000425073.2:c.987C>A ENSP00000404790.2:p.Cys329Ter
ENST00000433016.6:c.987C>A ENSP00000410104.2:p.Cys329Ter
ENST00000444960.6:c.987C>A ENSP00000388076.2:p.Cys329Ter
ENST00000445516.2:c.987C>A ENSP00000404084.2:p.Cys329Ter
ENST00000454017.6:c.987C>A ENSP00000405835.2:p.Cys329Ter
ENST00000458177.7:c.987C>A ENSP00000391675.2:p.Cys329Ter
ENST00000458493.6:c.987C>A ENSP00000396352.2:p.Cys329Ter
ENST00000475770.6:n.1433C>A
ENST00000650585.2:c.987C>A ENSP00000498010.2:p.Cys329Ter
ENST00000684808.1:c.*494C>A ENSP00000508621.1:n.*494C>A
ENST00000685285.1:n.2171C>A
ENST00000685431.1:c.845+357C>A ENSP00000509995.1:n.845+357C>A
ENST00000686043.1:c.*250C>A ENSP00000510108.1:n.*250C>A
ENST00000686094.1:c.987C>A ENSP00000510015.1:p.Cys329Ter
ENST00000686149.1:n.2466C>A
ENST00000686233.1:n.1375C>A
ENST00000686527.1:c.987C>A ENSP00000509139.1:p.Cys329Ter
ENST00000686619.1:c.987C>A ENSP00000509512.1:p.Cys329Ter
ENST00000686785.1:c.*178+952C>A ENSP00000508596.1:n.*178+952C>A
ENST00000687135.1:c.987C>A ENSP00000509617.1:p.Cys329Ter
ENST00000687627.1:n.1477C>A
ENST00000687876.1:c.*494C>A ENSP00000509086.1:n.*494C>A
ENST00000688196.1:n.1347C>A
ENST00000688314.1:c.*250C>A ENSP00000510229.1:n.*250C>A
ENST00000688404.1:c.987C>A ENSP00000509939.1:p.Cys329Ter
ENST00000688665.1:c.987C>A ENSP00000509209.1:p.Cys329Ter
ENST00000688766.1:n.2094C>A
ENST00000688781.1:c.*797C>A ENSP00000510196.1:n.*797C>A
ENST00000689082.1:n.1809C>A
ENST00000689411.1:n.2922C>A
ENST00000689539.1:c.987C>A ENSP00000510360.1:p.Cys329Ter
ENST00000689556.1:c.845+357C>A ENSP00000508543.1:n.845+357C>A
ENST00000689778.1:n.1526C>A
ENST00000690292.1:c.*622C>A ENSP00000510303.1:n.*622C>A
ENST00000690529.1:c.987C>A ENSP00000510733.1:p.Cys329Ter
ENST00000690720.1:c.987C>A ENSP00000509832.1:p.Cys329Ter
ENST00000690751.1:c.*352+357C>A ENSP00000509101.1:n.*352+357C>A
ENST00000690904.1:n.1945+952C>A
ENST00000690908.1:c.845+357C>A ENSP00000510110.1:n.845+357C>A
ENST00000691239.1:c.*161C>A ENSP00000508475.1:n.*161C>A
ENST00000691622.1:n.1692C>A
ENST00000691827.1:c.*797C>A ENSP00000508551.1:n.*797C>A
ENST00000691972.1:c.987C>A ENSP00000510591.1:p.Cys329Ter
ENST00000692000.1:n.2130C>A
ENST00000692157.1:c.987C>A ENSP00000509514.1:p.Cys329Ter
ENST00000692205.1:n.1364C>A
ENST00000692281.1:c.987C>A ENSP00000510568.1:p.Cys329Ter
ENST00000692361.1:n.1364C>A
ENST00000692428.1:n.3468C>A
ENST00000692690.1:c.*494C>A ENSP00000509642.1:n.*494C>A
ENST00000692807.1:c.987C>A ENSP00000508564.1:p.Cys329Ter
ENST00000693096.1:n.3243C>A
ENST00000693563.1:c.*250C>A ENSP00000510120.1:n.*250C>A
ENST00000394505.7:c.987C>A MANE Select ENSP00000378013.2:p.Cys329Ter
ENST00000458177.6:c.987C>A ENSP00000391675.2:p.Cys329Ter
ENST00000650585.1:c.987C>A ENSP00000498010.1:p.Cys329Ter
ENST00000340022.6:c.987C>A ENSP00000344668.2:p.Cys329Ter
ENST00000394503.6:c.845+357C>A ENSP00000378011.2:n.845+357C>A
ENST00000394505.6:c.987C>A ENSP00000378013.2:p.Cys329Ter
ENST00000394507.5:c.987C>A ENSP00000378015.1:p.Cys329Ter
ENST00000412043.6:c.987C>A ENSP00000410909.2:p.Cys329Ter
ENST00000445516.1:c.273C>A ENSP00000404084.1:p.Cys91Ter
ENST00000475770.5:n.629C>A
ENST00000486261.5:n.1618C>A
ENST00000611677.4:c.987C>A ENSP00000478777.1:p.Cys329Ter
NM_001013406.1:c.845+357C>A NP_001013424.1:n.845+357C>A
NM_004912.3:c.987C>A NP_004903.2:p.Cys329Ter
NM_194454.1:c.987C>A NP_919436.1:p.Cys329Ter
NM_194455.1:c.987C>A NP_919437.1:p.Cys329Ter
NM_194456.1:c.987C>A , LRG_650t1:c.987C>A NP_919438.1:p.Cys329Ter
XM_005250660.2:c.987C>A XP_005250717.1:p.Cys329Ter
XM_005250662.2:c.987C>A XP_005250719.1:p.Cys329Ter
XM_005250664.2:c.987C>A XP_005250721.1:p.Cys329Ter
XM_005250665.2:c.987C>A XP_005250722.1:p.Cys329Ter
XM_005250666.2:c.987C>A XP_005250723.1:p.Cys329Ter
XM_005250667.2:c.987C>A XP_005250724.1:p.Cys329Ter
XM_005250668.2:c.987C>A XP_005250725.1:p.Cys329Ter
XM_005250669.2:c.987C>A XP_005250726.1:p.Cys329Ter
XM_006716160.2:c.987C>A XP_006716223.1:p.Cys329Ter
XM_006716161.2:c.987C>A XP_006716224.1:p.Cys329Ter
XM_006716162.2:c.987C>A XP_006716225.1:p.Cys329Ter
XM_006716163.2:c.987C>A XP_006716226.1:p.Cys329Ter
XM_011516651.1:c.987C>A XP_011514953.1:p.Cys329Ter
XM_011516652.1:c.987C>A XP_011514954.1:p.Cys329Ter
XM_011516653.1:c.987C>A XP_011514955.1:p.Cys329Ter
XM_011516654.1:c.987C>A XP_011514956.1:p.Cys329Ter
XM_011516655.1:c.987C>A XP_011514957.1:p.Cys329Ter
XM_011516656.1:c.987C>A XP_011514958.1:p.Cys329Ter
XM_011516657.1:c.987C>A XP_011514959.1:p.Cys329Ter
XM_011516658.1:c.987C>A XP_011514960.1:p.Cys329Ter
XM_011516659.1:c.987C>A XP_011514961.1:p.Cys329Ter
XM_011516660.1:c.987C>A XP_011514962.1:p.Cys329Ter
XM_011516661.1:c.987C>A XP_011514963.1:p.Cys329Ter
NM_001013406.2:c.845+357C>A NP_001013424.1:n.845+357C>A
NM_001350669.1:c.845+357C>A NP_001337598.1:n.845+357C>A
NM_001350670.1:c.845+357C>A NP_001337599.1:n.845+357C>A
NM_001350671.1:c.273C>A NP_001337600.1:p.Cys91Ter
NM_001350672.1:c.987C>A NP_001337601.1:p.Cys329Ter
NM_001350673.1:c.987C>A NP_001337602.1:p.Cys329Ter
NM_001350674.1:c.987C>A NP_001337603.1:p.Cys329Ter
NM_001350675.1:c.987C>A NP_001337604.1:p.Cys329Ter
NM_001350676.1:c.987C>A NP_001337605.1:p.Cys329Ter
NM_001350677.1:c.987C>A NP_001337606.1:p.Cys329Ter
NM_001350678.1:c.987C>A NP_001337607.1:p.Cys329Ter
NM_001350679.1:c.987C>A NP_001337608.1:p.Cys329Ter
NM_001350680.1:c.987C>A NP_001337609.1:p.Cys329Ter
NM_001350681.1:c.987C>A NP_001337610.1:p.Cys329Ter
NM_001350682.1:c.987C>A NP_001337611.1:p.Cys329Ter
NM_001350683.1:c.987C>A NP_001337612.1:p.Cys329Ter
NM_001350684.1:c.987C>A NP_001337613.1:p.Cys329Ter
NM_001350685.1:c.987C>A NP_001337614.1:p.Cys329Ter
NM_001350686.1:c.987C>A NP_001337615.1:p.Cys329Ter
NM_001350687.1:c.987C>A NP_001337616.1:p.Cys329Ter
NM_001350688.1:c.987C>A NP_001337617.1:p.Cys329Ter
NM_001350689.1:c.987C>A NP_001337618.1:p.Cys329Ter
NM_001350690.1:c.987C>A NP_001337619.1:p.Cys329Ter
NM_001350691.1:c.987C>A NP_001337620.1:p.Cys329Ter
NM_001350692.1:c.987C>A NP_001337621.1:p.Cys329Ter
NM_001350693.1:c.987C>A NP_001337622.1:p.Cys329Ter
NM_001350694.1:c.987C>A NP_001337623.1:p.Cys329Ter
NM_001350695.1:c.987C>A NP_001337624.1:p.Cys329Ter
NM_001350696.1:c.987C>A NP_001337625.1:p.Cys329Ter
NM_001350697.1:c.987C>A NP_001337626.1:p.Cys329Ter
NM_004912.4:c.987C>A NP_004903.2:p.Cys329Ter
NM_194454.2:c.987C>A NP_919436.1:p.Cys329Ter
XM_005250666.4:c.987C>A XP_005250723.1:p.Cys329Ter
XM_006716162.4:c.987C>A XP_006716225.1:p.Cys329Ter
XM_011516651.3:c.987C>A XP_011514953.1:p.Cys329Ter
XM_011516654.3:c.987C>A XP_011514956.1:p.Cys329Ter
XM_011516655.3:c.987C>A XP_011514957.1:p.Cys329Ter
XM_011516658.3:c.987C>A XP_011514960.1:p.Cys329Ter
XM_011516659.3:c.987C>A XP_011514961.1:p.Cys329Ter
XM_011516660.3:c.987C>A XP_011514962.1:p.Cys329Ter
XM_017012758.2:c.273C>A XP_016868247.1:p.Cys91Ter
XM_024446982.1:c.987C>A XP_024302750.1:p.Cys329Ter
XM_024446983.1:c.987C>A XP_024302751.1:p.Cys329Ter
XM_024446984.1:c.150C>A XP_024302752.1:p.Cys50Ter
NM_194454.3:c.987C>A MANE Select NP_919436.1:p.Cys329Ter