Canonical Allele Identifier: CA8080615

Gene: KATNB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57741746C>T , CM000678.2:g.57741746C>T	GRCh38
NC_000016.9:g.57775658C>T , CM000678.1:g.57775658C>T	GRCh37
NC_000016.8:g.56333159C>T	NCBI36
NG_046947.1:g.11027C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005886.3:c.100C>T MANE Select	NP_005877.2:p.Arg34Trp
ENST00000379661.8:c.100C>T MANE Select	ENSP00000368982.3:p.Arg34Trp
NM_005886.2:c.100C>T	NP_005877.2:p.Arg34Trp
ENST00000379661.7:c.100C>T	ENSP00000368982.3:p.Arg34Trp
ENST00000562592.5:c.100C>T	ENSP00000455350.1:p.Arg34Trp
ENST00000563127.1:n.152C>T
ENST00000566611.5:n.619C>T
ENST00000566726.5:c.112C>T	ENSP00000455270.1:p.Arg38Trp
ENST00000566785.5:c.100C>T	ENSP00000457347.1:p.Arg34Trp
ENST00000569627.1:c.100C>T	ENSP00000457046.1:p.Arg34Trp
XM_005255772.3:c.100C>T	XP_005255829.1:p.Arg34Trp
XM_005255772.5:c.100C>T	XP_005255829.1:p.Arg34Trp
XM_006721121.2:c.100C>T	XP_006721184.1:p.Arg34Trp
XM_006721121.4:c.100C>T	XP_006721184.1:p.Arg34Trp
XM_006721122.2:c.100C>T	XP_006721185.1:p.Arg34Trp
XM_006721123.2:c.100C>T	XP_006721186.1:p.Arg34Trp
XM_006721123.4:c.100C>T	XP_006721186.1:p.Arg34Trp
XM_011522810.1:c.100C>T	XP_011521112.1:p.Arg34Trp
XM_011522810.2:c.100C>T	XP_011521112.1:p.Arg34Trp
XM_017022860.2:c.100C>T	XP_016878349.1:p.Arg34Trp
XM_017022861.1:c.100C>T	XP_016878350.1:p.Arg34Trp
XM_017022862.1:c.100C>T	XP_016878351.1:p.Arg34Trp
XM_017022863.1:c.100C>T	XP_016878352.1:p.Arg34Trp
XM_017022864.1:c.100C>T	XP_016878353.1:p.Arg34Trp