Canonical Allele Identifier: CA394112221

Linked Data

gnomAD v4: 16-681513-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681513A>G , CM000678.2:g.681513A>G GRCh38
NC_000016.9:g.731513A>G , CM000678.1:g.731513A>G GRCh37
NC_000016.8:g.671514A>G NCBI36
NG_034141.1:g.6403A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.434A>G (STUB1) MANE Select ENSP00000219548.4:p.Lys145Arg
ENST00000219548.8:c.434A>G (STUB1) ENSP00000219548.4:p.Lys145Arg
ENST00000563505.5:n.530A>G (STUB1)
ENST00000564316.1:c.33A>G (STUB1)
ENST00000564370.5:c.218A>G (STUB1) ENSP00000456875.1:p.Lys73Arg
ENST00000565677.5:c.218A>G (STUB1) ENSP00000457228.1:p.Lys73Arg
ENST00000566181.2:n.203A>G (STUB1)
ENST00000566408.5:c.151A>G (STUB1)
ENST00000567173.5:c.377A>G (STUB1) ENSP00000456591.1:p.Lys126Arg
ENST00000569248.5:n.1008A>G (STUB1)
ENST00000620831.4:c.-50+38210A>G (MSLN) ENSP00000482893.1:n.-50+38210A>G
NM_001293197.1:c.218A>G (STUB1) NP_001280126.1:p.Lys73Arg
NM_005861.3:c.434A>G (STUB1) NP_005852.2:p.Lys145Arg
NM_005861.4:c.434A>G (STUB1) MANE Select NP_005852.2:p.Lys145Arg
NM_001293197.2:c.218A>G (STUB1) NP_001280126.1:p.Lys73Arg