Canonical Allele Identifier: CA396067301

Gene: KATNB1

Linked Data

• gnomAD v4: 16-57751642-G-T
• MyVariant Identifiers: chr16:g.57785554G>T (hg19) ; chr16:g.57751642G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57751642G>T , CM000678.2:g.57751642G>T	GRCh38
NC_000016.9:g.57785554G>T , CM000678.1:g.57785554G>T	GRCh37
NC_000016.8:g.56343055G>T	NCBI36
NG_046947.1:g.20923G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379661.8:c.434G>T MANE Select	ENSP00000368982.3:p.Gly145Val
ENST00000379661.7:c.434G>T	ENSP00000368982.3:p.Gly145Val
ENST00000562592.5:c.434G>T	ENSP00000455350.1:p.Gly145Val
ENST00000563127.1:n.486G>T
ENST00000566611.5:n.953G>T
ENST00000566726.5:c.446G>T	ENSP00000455270.1:p.Gly149Val
ENST00000569627.1:c.333G>T	ENSP00000457046.1:p.Gly111=
NM_005886.2:c.434G>T	NP_005877.2:p.Gly145Val
XM_005255772.3:c.434G>T	XP_005255829.1:p.Gly145Val
XM_006721121.2:c.434G>T	XP_006721184.1:p.Gly145Val
XM_006721122.2:c.434G>T	XP_006721185.1:p.Gly145Val
XM_006721123.2:c.434G>T	XP_006721186.1:p.Gly145Val
XM_011522810.1:c.434G>T	XP_011521112.1:p.Gly145Val
XM_005255772.5:c.434G>T	XP_005255829.1:p.Gly145Val
XM_006721121.4:c.434G>T	XP_006721184.1:p.Gly145Val
XM_006721123.4:c.434G>T	XP_006721186.1:p.Gly145Val
XM_011522810.2:c.434G>T	XP_011521112.1:p.Gly145Val
XM_017022860.2:c.434G>T	XP_016878349.1:p.Gly145Val
XM_017022861.1:c.434G>T	XP_016878350.1:p.Gly145Val
XM_017022862.1:c.434G>T	XP_016878351.1:p.Gly145Val
XM_017022863.1:c.434G>T	XP_016878352.1:p.Gly145Val
XM_017022864.1:c.434G>T	XP_016878353.1:p.Gly145Val
NM_005886.3:c.434G>T MANE Select	NP_005877.2:p.Gly145Val