Canonical Allele Identifier: CA394112014

Linked Data

gnomAD v4: 16-681467-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681467A>T , CM000678.2:g.681467A>T GRCh38
NC_000016.9:g.731467A>T , CM000678.1:g.731467A>T GRCh37
NC_000016.8:g.671468A>T NCBI36
NG_034141.1:g.6357A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.388A>T (STUB1) MANE Select ENSP00000219548.4:p.Asn130Tyr
ENST00000219548.8:c.388A>T (STUB1) ENSP00000219548.4:p.Asn130Tyr
ENST00000563505.5:n.484A>T (STUB1)
ENST00000564370.5:c.172A>T (STUB1) ENSP00000456875.1:p.Asn58Tyr
ENST00000565677.5:c.172A>T (STUB1) ENSP00000457228.1:p.Asn58Tyr
ENST00000566181.2:n.157A>T (STUB1)
ENST00000566408.5:c.105A>T (STUB1)
ENST00000567173.5:c.331A>T (STUB1) ENSP00000456591.1:p.Asn111Tyr
ENST00000569248.5:n.962A>T (STUB1)
ENST00000620831.4:c.-50+38164A>T (MSLN) ENSP00000482893.1:n.-50+38164A>T
NM_001293197.1:c.172A>T (STUB1) NP_001280126.1:p.Asn58Tyr
NM_005861.3:c.388A>T (STUB1) NP_005852.2:p.Asn130Tyr
NM_005861.4:c.388A>T (STUB1) MANE Select NP_005852.2:p.Asn130Tyr
NM_001293197.2:c.172A>T (STUB1) NP_001280126.1:p.Asn58Tyr