Canonical Allele Identifier: CA185921

Gene: KATNB1

Linked Data

• ClinVar Variation Id: 180636
• ClinVar RCV Id: RCV000157597
• dbSNP Id: rs730880257
• gnomAD v4: 16-57755878-C-T
• MyVariant Identifiers: chr16:g.57789790C>T (hg19) ; chr16:g.57755878C>T (hg38)
• PubMed: PMID:25521378

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57755878C>T , CM000678.2:g.57755878C>T	GRCh38
NC_000016.9:g.57789790C>T , CM000678.1:g.57789790C>T	GRCh37
NC_000016.8:g.56347291C>T	NCBI36
NG_046947.1:g.25159C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379661.8:c.1604C>T MANE Select	ENSP00000368982.3:p.Ser535Leu
ENST00000379661.7:c.1604C>T	ENSP00000368982.3:p.Ser535Leu
ENST00000562542.1:n.136C>T
ENST00000563462.1:c.541C>T
ENST00000566611.5:n.2921C>T
ENST00000569018.5:n.281C>T
NM_005886.2:c.1604C>T	NP_005877.2:p.Ser535Leu
XM_005255772.3:c.1655C>T	XP_005255829.1:p.Ser552Leu
XM_006721121.2:c.1664C>T	XP_006721184.1:p.Ser555Leu
XM_006721122.2:c.1664C>T	XP_006721185.1:p.Ser555Leu
XM_006721123.2:c.1613C>T	XP_006721186.1:p.Ser538Leu
XM_011522810.1:c.1664C>T	XP_011521112.1:p.Ser555Leu
XM_005255772.5:c.1655C>T	XP_005255829.1:p.Ser552Leu
XM_006721121.4:c.1664C>T	XP_006721184.1:p.Ser555Leu
XM_006721123.4:c.1613C>T	XP_006721186.1:p.Ser538Leu
XM_011522810.2:c.1664C>T	XP_011521112.1:p.Ser555Leu
XM_017022860.2:c.1664C>T	XP_016878349.1:p.Ser555Leu
XM_017022861.1:c.1655C>T	XP_016878350.1:p.Ser552Leu
XM_017022862.1:c.1655C>T	XP_016878351.1:p.Ser552Leu
XM_017022863.1:c.1604C>T	XP_016878352.1:p.Ser535Leu
XM_017022864.1:c.1604C>T	XP_016878353.1:p.Ser535Leu
NM_005886.3:c.1604C>T MANE Select	NP_005877.2:p.Ser535Leu