Canonical Allele Identifier: CA10629603

Gene: KRIT1

Linked Data

• ClinVar Variation Id: 360901
• ClinVar RCV Id: RCV000329870 ; RCV000386656
• dbSNP Id: rs571563061
• gnomAD v2: 7-91875208-C-A
• gnomAD v3: 7-92245894-C-A
• gnomAD v4: 7-92245894-C-A
• MyVariant Identifiers: chr7:g.91875208C>A (hg19) ; chr7:g.92245894C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92245894C>A , CM000669.2:g.92245894C>A	GRCh38
NC_000007.13:g.91875208C>A , CM000669.1:g.91875208C>A	GRCh37
NC_000007.12:g.91713144C>A	NCBI36
NG_012964.1:g.5207G>T , LRG_650:g.5207G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000413688.6:n.21G>T
ENST00000422347.6:n.164G>T
ENST00000425073.2:c.-3141G>T	ENSP00000404790.2:n.-3141G>T
ENST00000430102.6:n.21G>T
ENST00000433016.6:c.-1143G>T	ENSP00000410104.2:n.-1143G>T
ENST00000444960.6:c.-384+12G>T	ENSP00000388076.2:n.-384+12G>T
ENST00000445516.2:c.-273+12G>T	ENSP00000404084.2:n.-273+12G>T
ENST00000452773.6:c.-151+12G>T	ENSP00000395346.2:n.-151+12G>T
ENST00000454017.6:c.-525G>T	ENSP00000405835.2:n.-525G>T
ENST00000458177.7:c.-421+12G>T	ENSP00000391675.2:n.-421+12G>T
ENST00000458493.6:c.-273+12G>T	ENSP00000396352.2:n.-273+12G>T
ENST00000489087.2:n.15G>T
ENST00000650585.2:c.-488G>T	ENSP00000498010.2:n.-488G>T
ENST00000684808.1:c.-273+12G>T	ENSP00000508621.1:n.-273+12G>T
ENST00000685285.1:n.21G>T
ENST00000685431.1:c.-470G>T	ENSP00000509995.1:n.-470G>T
ENST00000686043.1:c.-470G>T	ENSP00000510108.1:n.-470G>T
ENST00000686094.1:c.-273+12G>T	ENSP00000510015.1:n.-273+12G>T
ENST00000686233.1:n.19G>T
ENST00000686527.1:c.-323G>T	ENSP00000509139.1:n.-323G>T
ENST00000686619.1:c.-432G>T	ENSP00000509512.1:n.-432G>T
ENST00000686785.1:c.-377G>T	ENSP00000508596.1:n.-377G>T
ENST00000687517.1:n.21G>T
ENST00000687627.1:n.21G>T
ENST00000687876.1:c.-995G>T	ENSP00000509086.1:n.-995G>T
ENST00000688665.1:c.-268G>T	ENSP00000509209.1:n.-268G>T
ENST00000688781.1:c.-525G>T	ENSP00000510196.1:n.-525G>T
ENST00000689411.1:n.27G>T
ENST00000689539.1:c.-525G>T	ENSP00000510360.1:n.-525G>T
ENST00000689556.1:c.-525G>T	ENSP00000508543.1:n.-525G>T
ENST00000689778.1:n.15G>T
ENST00000690529.1:c.-276G>T	ENSP00000510733.1:n.-276G>T
ENST00000690720.1:c.-471G>T	ENSP00000509832.1:n.-471G>T
ENST00000690751.1:c.-665G>T	ENSP00000509101.1:n.-665G>T
ENST00000690904.1:n.19G>T
ENST00000690908.1:c.-470G>T	ENSP00000510110.1:n.-470G>T
ENST00000691239.1:c.-384+12G>T	ENSP00000508475.1:n.-384+12G>T
ENST00000691622.1:n.21G>T
ENST00000691827.1:c.-303G>T	ENSP00000508551.1:n.-303G>T
ENST00000691972.1:c.-740G>T	ENSP00000510591.1:n.-740G>T
ENST00000692000.1:n.21G>T
ENST00000692157.1:c.-493G>T	ENSP00000509514.1:n.-493G>T
ENST00000692205.1:n.21G>T
ENST00000692281.1:c.-488G>T	ENSP00000510568.1:n.-488G>T
ENST00000692361.1:n.21G>T
ENST00000692428.1:n.27G>T
ENST00000692690.1:c.-850G>T	ENSP00000509642.1:n.-850G>T
ENST00000692807.1:c.-470G>T	ENSP00000508564.1:n.-470G>T
ENST00000394505.7:c.-525G>T MANE Select	ENSP00000378013.2:n.-525G>T
ENST00000458177.6:c.-590+12G>T	ENSP00000391675.2:n.-590+12G>T
ENST00000650585.1:c.-488G>T	ENSP00000498010.1:n.-488G>T
ENST00000340022.6:c.-813G>T	ENSP00000344668.2:n.-813G>T
ENST00000394503.6:c.-377G>T	ENSP00000378011.2:n.-377G>T
ENST00000394505.6:c.-525G>T	ENSP00000378013.2:n.-525G>T
ENST00000394507.5:c.-590+12G>T	ENSP00000378015.1:n.-590+12G>T
ENST00000413688.5:c.-323G>T	ENSP00000410467.1:n.-323G>T
ENST00000422347.5:c.-384+12G>T	ENSP00000395604.1:n.-384+12G>T
ENST00000425073.1:c.-493G>T	ENSP00000404790.1:n.-493G>T
ENST00000425919.5:c.-421+12G>T	ENSP00000414694.1:n.-421+12G>T
ENST00000433016.5:c.-276G>T	ENSP00000410104.1:n.-276G>T
ENST00000440209.5:c.-201G>T	ENSP00000396042.1:n.-201G>T
ENST00000444960.5:c.-421+12G>T	ENSP00000388076.1:n.-421+12G>T
ENST00000452773.5:c.-470G>T	ENSP00000395346.1:n.-470G>T
ENST00000454017.5:c.-471G>T	ENSP00000405835.1:n.-471G>T
ENST00000458177.5:c.-590+12G>T	ENSP00000391675.1:n.-590+12G>T
ENST00000458493.5:c.-273+12G>T	ENSP00000396352.1:n.-273+12G>T
ENST00000466166.1:n.31G>T
ENST00000489087.1:n.21G>T
NM_001013406.1:c.-377G>T	NP_001013424.1:n.-377G>T
NM_004912.3:c.-888G>T	NP_004903.2:n.-888G>T
NM_194454.1:c.-525G>T	NP_919436.1:n.-525G>T
NM_194455.1:c.-813G>T	NP_919437.1:n.-813G>T
NM_194456.1:c.-590+12G>T , LRG_650t1:c.-590+12G>T	NP_919438.1:n.-590+12G>T
XM_005250660.2:c.-488G>T	XP_005250717.1:n.-488G>T
XM_005250662.2:c.-471G>T	XP_005250719.1:n.-471G>T
XM_005250664.2:c.-377G>T	XP_005250721.1:n.-377G>T
XM_005250665.2:c.-384+12G>T	XP_005250722.1:n.-384+12G>T
XM_005250666.2:c.-565G>T	XP_005250723.1:n.-565G>T
XM_005250668.2:c.-340G>T	XP_005250725.1:n.-340G>T
XM_005250669.2:c.-323G>T	XP_005250726.1:n.-323G>T
XM_006716160.2:c.-850G>T	XP_006716223.1:n.-850G>T
XM_006716161.2:c.-421+12G>T	XP_006716224.1:n.-421+12G>T
XM_006716162.2:c.-434G>T	XP_006716225.1:n.-434G>T
XM_006716163.2:c.-273+12G>T	XP_006716226.1:n.-273+12G>T
XM_011516651.1:c.-606G>T	XP_011514953.1:n.-606G>T
XM_011516652.1:c.-470G>T	XP_011514954.1:n.-470G>T
XM_011516653.1:c.-357G>T	XP_011514955.1:n.-357G>T
XM_011516654.1:c.-624G>T	XP_011514956.1:n.-624G>T
XM_011516655.1:c.-276G>T	XP_011514957.1:n.-276G>T
XM_011516656.1:c.-255G>T	XP_011514958.1:n.-255G>T
XM_011516657.1:c.-172+12G>T	XP_011514959.1:n.-172+12G>T
XM_011516658.1:c.-223G>T	XP_011514960.1:n.-223G>T
XM_011516659.1:c.-201G>T	XP_011514961.1:n.-201G>T
XM_011516661.1:c.-3+12G>T	XP_011514963.1:n.-3+12G>T
NM_001013406.2:c.-377G>T	NP_001013424.1:n.-377G>T
NM_001350669.1:c.-345G>T	NP_001337598.1:n.-345G>T
NM_001350670.1:c.-525G>T	NP_001337599.1:n.-525G>T
NM_001350671.1:c.-1285G>T	NP_001337600.1:n.-1285G>T
NM_001350672.1:c.-3+12G>T	NP_001337601.1:n.-3+12G>T
NM_001350673.1:c.-273+12G>T	NP_001337602.1:n.-273+12G>T
NM_001350674.1:c.-502+12G>T	NP_001337603.1:n.-502+12G>T
NM_001350675.1:c.-421+12G>T	NP_001337604.1:n.-421+12G>T
NM_001350676.1:c.-384+12G>T	NP_001337605.1:n.-384+12G>T
NM_001350677.1:c.-172+12G>T	NP_001337606.1:n.-172+12G>T
NM_001350678.1:c.-253+12G>T	NP_001337607.1:n.-253+12G>T
NM_001350679.1:c.-323G>T	NP_001337608.1:n.-323G>T
NM_001350680.1:c.-215+12G>T	NP_001337609.1:n.-215+12G>T
NM_001350681.1:c.-738G>T	NP_001337610.1:n.-738G>T
NM_001350682.1:c.-700G>T	NP_001337611.1:n.-700G>T
NM_001350683.1:c.-357G>T	NP_001337612.1:n.-357G>T
NM_001350684.1:c.-488G>T	NP_001337613.1:n.-488G>T
NM_001350685.1:c.-493G>T	NP_001337614.1:n.-493G>T
NM_001350686.1:c.-702G>T	NP_001337615.1:n.-702G>T
NM_001350687.1:c.-244G>T	NP_001337616.1:n.-244G>T
NM_001350688.1:c.-340G>T	NP_001337617.1:n.-340G>T
NM_001350689.1:c.-471G>T	NP_001337618.1:n.-471G>T
NM_001350690.1:c.-377G>T	NP_001337619.1:n.-377G>T
NM_001350691.1:c.-432G>T	NP_001337620.1:n.-432G>T
NM_001350692.1:c.-618G>T	NP_001337621.1:n.-618G>T
NM_001350693.1:c.-505G>T	NP_001337622.1:n.-505G>T
NM_001350694.1:c.-319G>T	NP_001337623.1:n.-319G>T
NM_001350695.1:c.-470G>T	NP_001337624.1:n.-470G>T
NM_001350696.1:c.-255G>T	NP_001337625.1:n.-255G>T
NM_001350697.1:c.-636G>T	NP_001337626.1:n.-636G>T
NM_004912.4:c.-888G>T	NP_004903.2:n.-888G>T
NM_194454.2:c.-525G>T	NP_919436.1:n.-525G>T
XM_005250666.4:c.-565G>T	XP_005250723.1:n.-565G>T
XM_006716162.4:c.-434G>T	XP_006716225.1:n.-434G>T
XM_011516651.3:c.-606G>T	XP_011514953.1:n.-606G>T
XM_011516654.3:c.-624G>T	XP_011514956.1:n.-624G>T
XM_011516655.3:c.-276G>T	XP_011514957.1:n.-276G>T
XM_011516659.3:c.-201G>T	XP_011514961.1:n.-201G>T
XM_017012758.2:c.-1433G>T	XP_016868247.1:n.-1433G>T
XM_024446982.1:c.-580G>T	XP_024302750.1:n.-580G>T
XM_024446983.1:c.-320+12G>T	XP_024302751.1:n.-320+12G>T
XM_024446984.1:c.-2332G>T	XP_024302752.1:n.-2332G>T
NM_194454.3:c.-525G>T MANE Select	NP_919436.1:n.-525G>T