Canonical Allele Identifier: CA620307666

Linked Data

dbSNP Id: rs1240642455
gnomAD v2: 16-731645-T-G
gnomAD v4: 16-681645-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681645T>G , CM000678.2:g.681645T>G GRCh38
NC_000016.9:g.731645T>G , CM000678.1:g.731645T>G GRCh37
NC_000016.8:g.671646T>G NCBI36
NG_034141.1:g.6535T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.524+42T>G (STUB1) MANE Select ENSP00000219548.4:n.524+42T>G
ENST00000219548.8:c.524+42T>G (STUB1) ENSP00000219548.4:n.524+42T>G
ENST00000563505.5:n.620+42T>G (STUB1)
ENST00000564316.1:c.123+42T>G (STUB1)
ENST00000564370.5:c.308+42T>G (STUB1) ENSP00000456875.1:n.308+42T>G
ENST00000565677.5:c.308+42T>G (STUB1) ENSP00000457228.1:n.308+42T>G
ENST00000566181.2:n.293+42T>G (STUB1)
ENST00000566408.5:c.241+42T>G (STUB1)
ENST00000567173.5:c.467+42T>G (STUB1) ENSP00000456591.1:n.467+42T>G
ENST00000569248.5:n.1098+42T>G (STUB1)
ENST00000620831.4:c.-50+38342T>G (MSLN) ENSP00000482893.1:n.-50+38342T>G
NM_001293197.1:c.308+42T>G (STUB1) NP_001280126.1:n.308+42T>G
NM_005861.3:c.524+42T>G (STUB1) NP_005852.2:n.524+42T>G
NM_005861.4:c.524+42T>G (STUB1) MANE Select NP_005852.2:n.524+42T>G
NM_001293197.2:c.308+42T>G (STUB1) NP_001280126.1:n.308+42T>G