Canonical Allele Identifier: CA10575675
Community Standard Title: NM_005886.3(KATNB1):c.1A>G (p.Met1Val)
Gene: KATNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.57737244A>G , CM000678.2:g.57737244A>G GRCh38
NC_000016.9:g.57771156A>G , CM000678.1:g.57771156A>G GRCh37
NC_000016.8:g.56328657A>G NCBI36
NG_046947.1:g.6525A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005886.3:c.1A>G MANE Select NP_005877.2:p.Met1Val
ENST00000379661.8:c.1A>G MANE Select ENSP00000368982.3:p.Met1Val
NM_005886.2:c.1A>G NP_005877.2:p.Met1Val
ENST00000379661.7:c.1A>G ENSP00000368982.3:p.Met1Val
ENST00000562592.5:c.1A>G ENSP00000455350.1:p.Met1Val
ENST00000563127.1:n.53A>G
ENST00000566611.5:n.520A>G
ENST00000566726.5:c.52+177A>G ENSP00000455270.1:n.52+177A>G
ENST00000566785.5:c.1A>G ENSP00000457347.1:p.Met1Val
ENST00000569627.1:c.1A>G ENSP00000457046.1:p.Met1Val
XM_005255772.3:c.1A>G XP_005255829.1:p.Met1Val
XM_005255772.5:c.1A>G XP_005255829.1:p.Met1Val
XM_006721121.2:c.1A>G XP_006721184.1:p.Met1Val
XM_006721121.4:c.1A>G XP_006721184.1:p.Met1Val
XM_006721122.2:c.1A>G XP_006721185.1:p.Met1Val
XM_006721123.2:c.1A>G XP_006721186.1:p.Met1Val
XM_006721123.4:c.1A>G XP_006721186.1:p.Met1Val
XM_011522810.1:c.1A>G XP_011521112.1:p.Met1Val
XM_011522810.2:c.1A>G XP_011521112.1:p.Met1Val
XM_017022860.2:c.1A>G XP_016878349.1:p.Met1Val
XM_017022861.1:c.1A>G XP_016878350.1:p.Met1Val
XM_017022862.1:c.1A>G XP_016878351.1:p.Met1Val
XM_017022863.1:c.1A>G XP_016878352.1:p.Met1Val
XM_017022864.1:c.1A>G XP_016878353.1:p.Met1Val