Canonical Allele Identifier: CA394112150

Linked Data

gnomAD v4: 16-681498-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681498G>C , CM000678.2:g.681498G>C GRCh38
NC_000016.9:g.731498G>C , CM000678.1:g.731498G>C GRCh37
NC_000016.8:g.671499G>C NCBI36
NG_034141.1:g.6388G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.419G>C (STUB1) MANE Select ENSP00000219548.4:p.Arg140Pro
ENST00000219548.8:c.419G>C (STUB1) ENSP00000219548.4:p.Arg140Pro
ENST00000563505.5:n.515G>C (STUB1)
ENST00000564316.1:c.18G>C (STUB1)
ENST00000564370.5:c.203G>C (STUB1) ENSP00000456875.1:p.Arg68Pro
ENST00000565677.5:c.203G>C (STUB1) ENSP00000457228.1:p.Arg68Pro
ENST00000566181.2:n.188G>C (STUB1)
ENST00000566408.5:c.136G>C (STUB1)
ENST00000567173.5:c.362G>C (STUB1) ENSP00000456591.1:p.Arg121Pro
ENST00000569248.5:n.993G>C (STUB1)
ENST00000620831.4:c.-50+38195G>C (MSLN) ENSP00000482893.1:n.-50+38195G>C
NM_001293197.1:c.203G>C (STUB1) NP_001280126.1:p.Arg68Pro
NM_005861.3:c.419G>C (STUB1) NP_005852.2:p.Arg140Pro
NM_005861.4:c.419G>C (STUB1) MANE Select NP_005852.2:p.Arg140Pro
NM_001293197.2:c.203G>C (STUB1) NP_001280126.1:p.Arg68Pro