Canonical Allele Identifier: CA10624377
Gene: KRIT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 360875
dbSNP Id: rs112567410

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92200416G>A , CM000669.2:g.92200416G>A GRCh38
NC_000007.13:g.91829730G>A , CM000669.1:g.91829730G>A GRCh37
NC_000007.12:g.91667666G>A NCBI36
NG_012964.1:g.50685C>T , LRG_650:g.50685C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000394505.7:c.*320C>T MANE Select ENSP00000378013.2:p.=
ENST00000458177.6:c.*320C>T ENSP00000391675.2:p.=
ENST00000650585.1:c.2025+12779C>T ENSP00000498010.1:p.=
ENST00000340022.6:c.*320C>T ENSP00000344668.2:p.=
ENST00000394503.6:c.*320C>T ENSP00000378011.2:p.=
ENST00000394505.6:c.*320C>T ENSP00000378013.2:p.=
ENST00000394507.5:c.*320C>T ENSP00000378015.1:p.=
ENST00000412043.6:c.*320C>T ENSP00000410909.2:p.=
ENST00000475770.5:n.2173C>T
ENST00000486261.5:n.3054C>T
ENST00000611677.4:c.*831C>T ENSP00000478777.1:p.=
NM_001013406.1:c.*320C>T NP_001013424.1:p.=
NM_004912.3:c.*320C>T NP_004903.2:p.=
NM_194454.1:c.*320C>T NP_919436.1:p.=
NM_194455.1:c.*320C>T NP_919437.1:p.=
NM_194456.1:c.*320C>T , LRG_650t1:c.*320C>T NP_919438.1:p.=
XM_005250660.2:c.*320C>T XP_005250717.1:p.=
XM_005250662.2:c.*320C>T XP_005250719.1:p.=
XM_005250664.2:c.*320C>T XP_005250721.1:p.=
XM_005250665.2:c.*320C>T XP_005250722.1:p.=
XM_005250666.2:c.*320C>T XP_005250723.1:p.=
XM_005250667.2:c.*320C>T XP_005250724.1:p.=
XM_005250668.2:c.*320C>T XP_005250725.1:p.=
XM_005250669.2:c.*320C>T XP_005250726.1:p.=
XM_006716160.2:c.*320C>T XP_006716223.1:p.=
XM_006716161.2:c.*320C>T XP_006716224.1:p.=
XM_006716162.2:c.*320C>T XP_006716225.1:p.=
XM_006716163.2:c.*320C>T XP_006716226.1:p.=
XM_011516651.1:c.*320C>T XP_011514953.1:p.=
XM_011516652.1:c.*320C>T XP_011514954.1:p.=
XM_011516653.1:c.*320C>T XP_011514955.1:p.=
XM_011516654.1:c.*320C>T XP_011514956.1:p.=
XM_011516655.1:c.*320C>T XP_011514957.1:p.=
XM_011516656.1:c.*320C>T XP_011514958.1:p.=
XM_011516657.1:c.*320C>T XP_011514959.1:p.=
XM_011516658.1:c.*320C>T XP_011514960.1:p.=
XM_011516659.1:c.*320C>T XP_011514961.1:p.=
XM_011516660.1:c.*320C>T XP_011514962.1:p.=
XM_011516661.1:c.*320C>T XP_011514963.1:p.=
NM_001013406.2:c.*320C>T NP_001013424.1:p.=
NM_001350669.1:c.*320C>T NP_001337598.1:p.=
NM_001350670.1:c.*320C>T NP_001337599.1:p.=
NM_001350671.1:c.*320C>T NP_001337600.1:p.=
NM_001350672.1:c.*320C>T NP_001337601.1:p.=
NM_001350673.1:c.*320C>T NP_001337602.1:p.=
NM_001350674.1:c.*320C>T NP_001337603.1:p.=
NM_001350675.1:c.*320C>T NP_001337604.1:p.=
NM_001350676.1:c.*320C>T NP_001337605.1:p.=
NM_001350677.1:c.*320C>T NP_001337606.1:p.=
NM_001350678.1:c.*320C>T NP_001337607.1:p.=
NM_001350679.1:c.*320C>T NP_001337608.1:p.=
NM_001350680.1:c.*320C>T NP_001337609.1:p.=
NM_001350681.1:c.*320C>T NP_001337610.1:p.=
NM_001350682.1:c.*320C>T NP_001337611.1:p.=
NM_001350683.1:c.*320C>T NP_001337612.1:p.=
NM_001350684.1:c.*320C>T NP_001337613.1:p.=
NM_001350685.1:c.*320C>T NP_001337614.1:p.=
NM_001350686.1:c.*320C>T NP_001337615.1:p.=
NM_001350687.1:c.*320C>T NP_001337616.1:p.=
NM_001350688.1:c.*320C>T NP_001337617.1:p.=
NM_001350689.1:c.*320C>T NP_001337618.1:p.=
NM_001350690.1:c.*320C>T NP_001337619.1:p.=
NM_001350691.1:c.*320C>T NP_001337620.1:p.=
NM_001350692.1:c.*320C>T NP_001337621.1:p.=
NM_001350693.1:c.*320C>T NP_001337622.1:p.=
NM_001350694.1:c.*320C>T NP_001337623.1:p.=
NM_001350695.1:c.*320C>T NP_001337624.1:p.=
NM_001350696.1:c.*320C>T NP_001337625.1:p.=
NM_001350697.1:c.*320C>T NP_001337626.1:p.=
NM_004912.4:c.*320C>T NP_004903.2:p.=
NM_194454.2:c.*320C>T NP_919436.1:p.=
XM_005250666.4:c.*320C>T XP_005250723.1:p.=
XM_006716162.4:c.*320C>T XP_006716225.1:p.=
XM_011516651.3:c.*320C>T XP_011514953.1:p.=
XM_011516654.3:c.*320C>T XP_011514956.1:p.=
XM_011516655.3:c.*320C>T XP_011514957.1:p.=
XM_011516658.3:c.*320C>T XP_011514960.1:p.=
XM_011516659.3:c.*320C>T XP_011514961.1:p.=
XM_011516660.3:c.*320C>T XP_011514962.1:p.=
XM_017012758.2:c.*320C>T XP_016868247.1:p.=
XM_024446982.1:c.*320C>T XP_024302750.1:p.=
XM_024446983.1:c.*320C>T XP_024302751.1:p.=
XM_024446984.1:c.*320C>T XP_024302752.1:p.=
NM_194454.3:c.*320C>T MANE Select NP_919436.1:p.=