Canonical Allele Identifier: CA185923

Gene: KATNB1

Linked Data

• ClinVar Variation Id: 180637
• ClinVar RCV Id: RCV000157598
• dbSNP Id: rs730880258
• MyVariant Identifiers: chr16:g.57789805T>G (hg19) ; chr16:g.57755893T>G (hg38)
• PubMed: PMID:25521378

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57755893T>G , CM000678.2:g.57755893T>G	GRCh38
NC_000016.9:g.57789805T>G , CM000678.1:g.57789805T>G	GRCh37
NC_000016.8:g.56347306T>G	NCBI36
NG_046947.1:g.25174T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379661.8:c.1619T>G MANE Select	ENSP00000368982.3:p.Leu540Arg
ENST00000379661.7:c.1619T>G	ENSP00000368982.3:p.Leu540Arg
ENST00000562542.1:n.151T>G
ENST00000563462.1:c.556T>G
ENST00000566611.5:n.2936T>G
ENST00000569018.5:n.296T>G
NM_005886.2:c.1619T>G	NP_005877.2:p.Leu540Arg
XM_005255772.3:c.1670T>G	XP_005255829.1:p.Leu557Arg
XM_006721121.2:c.1679T>G	XP_006721184.1:p.Leu560Arg
XM_006721122.2:c.1679T>G	XP_006721185.1:p.Leu560Arg
XM_006721123.2:c.1628T>G	XP_006721186.1:p.Leu543Arg
XM_011522810.1:c.1679T>G	XP_011521112.1:p.Leu560Arg
XM_005255772.5:c.1670T>G	XP_005255829.1:p.Leu557Arg
XM_006721121.4:c.1679T>G	XP_006721184.1:p.Leu560Arg
XM_006721123.4:c.1628T>G	XP_006721186.1:p.Leu543Arg
XM_011522810.2:c.1679T>G	XP_011521112.1:p.Leu560Arg
XM_017022860.2:c.1679T>G	XP_016878349.1:p.Leu560Arg
XM_017022861.1:c.1670T>G	XP_016878350.1:p.Leu557Arg
XM_017022862.1:c.1670T>G	XP_016878351.1:p.Leu557Arg
XM_017022863.1:c.1619T>G	XP_016878352.1:p.Leu540Arg
XM_017022864.1:c.1619T>G	XP_016878353.1:p.Leu540Arg
NM_005886.3:c.1619T>G MANE Select	NP_005877.2:p.Leu540Arg