Canonical Allele Identifier: CA10575676

Gene: KATNB1

Linked Data

• ClinVar Variation Id: 180641
• ClinVar RCV Id: RCV000157602
• dbSNP Id: rs879255519
• MyVariant Identifiers: chr16:g.57785215G>A (hg19) ; chr16:g.57751303G>A (hg38)
• PubMed: PMID:25521379

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57751303G>A , CM000678.2:g.57751303G>A	GRCh38
NC_000016.9:g.57785215G>A , CM000678.1:g.57785215G>A	GRCh37
NC_000016.8:g.56342716G>A	NCBI36
NG_046947.1:g.20584G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379661.8:c.432+1G>A MANE Select	ENSP00000368982.3:n.432+1G>A
ENST00000379661.7:c.432+1G>A	ENSP00000368982.3:n.432+1G>A
ENST00000562592.5:c.432+1G>A	ENSP00000455350.1:n.432+1G>A
ENST00000563127.1:n.484+1G>A
ENST00000566611.5:n.951+1G>A
ENST00000566726.5:c.444+1G>A	ENSP00000455270.1:n.444+1G>A
ENST00000569627.1:c.331+1G>A	ENSP00000457046.1:n.331+1G>A
NM_005886.2:c.432+1G>A	NP_005877.2:n.432+1G>A
XM_005255772.3:c.432+1G>A	XP_005255829.1:n.432+1G>A
XM_006721121.2:c.432+1G>A	XP_006721184.1:n.432+1G>A
XM_006721122.2:c.432+1G>A	XP_006721185.1:n.432+1G>A
XM_006721123.2:c.432+1G>A	XP_006721186.1:n.432+1G>A
XM_011522810.1:c.432+1G>A	XP_011521112.1:n.432+1G>A
XM_005255772.5:c.432+1G>A	XP_005255829.1:n.432+1G>A
XM_006721121.4:c.432+1G>A	XP_006721184.1:n.432+1G>A
XM_006721123.4:c.432+1G>A	XP_006721186.1:n.432+1G>A
XM_011522810.2:c.432+1G>A	XP_011521112.1:n.432+1G>A
XM_017022860.2:c.432+1G>A	XP_016878349.1:n.432+1G>A
XM_017022861.1:c.432+1G>A	XP_016878350.1:n.432+1G>A
XM_017022862.1:c.432+1G>A	XP_016878351.1:n.432+1G>A
XM_017022863.1:c.432+1G>A	XP_016878352.1:n.432+1G>A
XM_017022864.1:c.432+1G>A	XP_016878353.1:n.432+1G>A
NM_005886.3:c.432+1G>A MANE Select	NP_005877.2:n.432+1G>A