Canonical Allele Identifier: CA394111971

Linked Data

gnomAD v4: 16-681458-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681458C>A , CM000678.2:g.681458C>A GRCh38
NC_000016.9:g.731458C>A , CM000678.1:g.731458C>A GRCh37
NC_000016.8:g.671459C>A NCBI36
NG_034141.1:g.6348C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.379C>A (STUB1) MANE Select ENSP00000219548.4:p.Gln127Lys
ENST00000219548.8:c.379C>A (STUB1) ENSP00000219548.4:p.Gln127Lys
ENST00000563505.5:n.475C>A (STUB1)
ENST00000564370.5:c.163C>A (STUB1) ENSP00000456875.1:p.Gln55Lys
ENST00000565677.5:c.163C>A (STUB1) ENSP00000457228.1:p.Gln55Lys
ENST00000566181.2:n.148C>A (STUB1)
ENST00000566408.5:c.96C>A (STUB1)
ENST00000567173.5:c.322C>A (STUB1) ENSP00000456591.1:p.Gln108Lys
ENST00000569248.5:n.953C>A (STUB1)
ENST00000620831.4:c.-50+38155C>A (MSLN) ENSP00000482893.1:n.-50+38155C>A
NM_001293197.1:c.163C>A (STUB1) NP_001280126.1:p.Gln55Lys
NM_005861.3:c.379C>A (STUB1) NP_005852.2:p.Gln127Lys
NM_005861.4:c.379C>A (STUB1) MANE Select NP_005852.2:p.Gln127Lys
NM_001293197.2:c.163C>A (STUB1) NP_001280126.1:p.Gln55Lys