Canonical Allele Identifier: CA10626552

Gene: KRIT1 ANKIB1

Linked Data

• ClinVar Variation Id: 360908
• ClinVar RCV Id: RCV000310747 ; RCV000367799
• dbSNP Id: rs58075588
• gnomAD v2: 7-91875371-G-A
• gnomAD v3: 7-92246057-G-A
• gnomAD v4: 7-92246057-G-A
• MyVariant Identifiers: chr7:g.91875371G>A (hg19) ; chr7:g.92246057G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92246057G>A , CM000669.2:g.92246057G>A	GRCh38
NC_000007.13:g.91875371G>A , CM000669.1:g.91875371G>A	GRCh37
NC_000007.12:g.91713307G>A	NCBI36
NG_012964.1:g.5044C>T , LRG_650:g.5044C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000422347.6:n.1C>T (KRIT1)
ENST00000458177.7:c.-572C>T (KRIT1)	ENSP00000391675.2:n.-572C>T
ENST00000684808.1:c.-424C>T (KRIT1)	ENSP00000508621.1:n.-424C>T
ENST00000265742.8:c.-553G>A (ANKIB1) MANE Select	ENSP00000265742.3:n.-553G>A
ENST00000458177.6:c.-741C>T (KRIT1)	ENSP00000391675.2:n.-741C>T
ENST00000340022.6:c.-976C>T (KRIT1)	ENSP00000344668.2:n.-976C>T
ENST00000394507.5:c.-741C>T (KRIT1)	ENSP00000378015.1:n.-741C>T
ENST00000444960.5:c.-572C>T (KRIT1)	ENSP00000388076.1:n.-572C>T
ENST00000458177.5:c.-741C>T (KRIT1)	ENSP00000391675.1:n.-741C>T
NM_194455.1:c.-976C>T (KRIT1)	NP_919437.1:n.-976C>T
NM_194456.1:c.-741C>T , LRG_650t1:c.-741C>T (KRIT1)	NP_919438.1:n.-741C>T
XM_006716161.2:c.-572C>T (KRIT1)	XP_006716224.1:n.-572C>T
NM_001013406.2:c.-540C>T (KRIT1)	NP_001013424.1:n.-540C>T
NM_001350669.1:c.-508C>T (KRIT1)	NP_001337598.1:n.-508C>T
NM_001350670.1:c.-688C>T (KRIT1)	NP_001337599.1:n.-688C>T
NM_001350671.1:c.-1448C>T (KRIT1)	NP_001337600.1:n.-1448C>T
NM_001350672.1:c.-154C>T (KRIT1)	NP_001337601.1:n.-154C>T
NM_001350673.1:c.-424C>T (KRIT1)	NP_001337602.1:n.-424C>T
NM_001350674.1:c.-653C>T (KRIT1)	NP_001337603.1:n.-653C>T
NM_001350675.1:c.-572C>T (KRIT1)	NP_001337604.1:n.-572C>T
NM_001350676.1:c.-535C>T (KRIT1)	NP_001337605.1:n.-535C>T
NM_001350677.1:c.-323C>T (KRIT1)	NP_001337606.1:n.-323C>T
NM_001350678.1:c.-404C>T (KRIT1)	NP_001337607.1:n.-404C>T
NM_001350679.1:c.-486C>T (KRIT1)	NP_001337608.1:n.-486C>T
NM_001350680.1:c.-366C>T (KRIT1)	NP_001337609.1:n.-366C>T
NM_001350681.1:c.-901C>T (KRIT1)	NP_001337610.1:n.-901C>T
NM_001350682.1:c.-863C>T (KRIT1)	NP_001337611.1:n.-863C>T
NM_001350683.1:c.-520C>T (KRIT1)	NP_001337612.1:n.-520C>T
NM_001350684.1:c.-651C>T (KRIT1)	NP_001337613.1:n.-651C>T
NM_001350685.1:c.-656C>T (KRIT1)	NP_001337614.1:n.-656C>T
NM_001350686.1:c.-865C>T (KRIT1)	NP_001337615.1:n.-865C>T
NM_001350687.1:c.-407C>T (KRIT1)	NP_001337616.1:n.-407C>T
NM_001350688.1:c.-503C>T (KRIT1)	NP_001337617.1:n.-503C>T
NM_001350689.1:c.-634C>T (KRIT1)	NP_001337618.1:n.-634C>T
NM_001350690.1:c.-540C>T (KRIT1)	NP_001337619.1:n.-540C>T
NM_001350691.1:c.-595C>T (KRIT1)	NP_001337620.1:n.-595C>T
NM_001350692.1:c.-781C>T (KRIT1)	NP_001337621.1:n.-781C>T
NM_001350693.1:c.-668C>T (KRIT1)	NP_001337622.1:n.-668C>T
NM_001350694.1:c.-482C>T (KRIT1)	NP_001337623.1:n.-482C>T
NM_001350695.1:c.-633C>T (KRIT1)	NP_001337624.1:n.-633C>T
NM_001350696.1:c.-418C>T (KRIT1)	NP_001337625.1:n.-418C>T
NM_001350697.1:c.-799C>T (KRIT1)	NP_001337626.1:n.-799C>T
NM_004912.4:c.-1051C>T (KRIT1)	NP_004903.2:n.-1051C>T
NM_194454.2:c.-688C>T (KRIT1)	NP_919436.1:n.-688C>T
NM_019004.2:c.-553G>A (ANKIB1) MANE Select	NP_061877.1:n.-553G>A