Canonical Allele Identifier: CA493008473

Linked Data

dbSNP Id: rs1205385548
gnomAD v2: 16-731532-G-A
gnomAD v3: 16-681532-G-A
gnomAD v4: 16-681532-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681532G>A , CM000678.2:g.681532G>A GRCh38
NC_000016.9:g.731532G>A , CM000678.1:g.731532G>A GRCh37
NC_000016.8:g.671533G>A NCBI36
NG_034141.1:g.6422G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.453G>A (STUB1) MANE Select ENSP00000219548.4:p.Glu151=
ENST00000219548.8:c.453G>A (STUB1) ENSP00000219548.4:p.Glu151=
ENST00000563505.5:n.549G>A (STUB1)
ENST00000564316.1:c.52G>A (STUB1)
ENST00000564370.5:c.237G>A (STUB1) ENSP00000456875.1:p.Glu79=
ENST00000565677.5:c.237G>A (STUB1) ENSP00000457228.1:p.Glu79=
ENST00000566181.2:n.222G>A (STUB1)
ENST00000566408.5:c.170G>A (STUB1)
ENST00000567173.5:c.396G>A (STUB1) ENSP00000456591.1:p.Glu132=
ENST00000569248.5:n.1027G>A (STUB1)
ENST00000620831.4:c.-50+38229G>A (MSLN) ENSP00000482893.1:n.-50+38229G>A
NM_001293197.1:c.237G>A (STUB1) NP_001280126.1:p.Glu79=
NM_005861.3:c.453G>A (STUB1) NP_005852.2:p.Glu151=
NM_005861.4:c.453G>A (STUB1) MANE Select NP_005852.2:p.Glu151=
NM_001293197.2:c.237G>A (STUB1) NP_001280126.1:p.Glu79=