Canonical Allele Identifier: CA8089233
Gene: CNOT1 HGNC NCBI
ClinVar Variation:
dbSNP:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.58545370C>T , CM000678.2:g.58545370C>T GRCh38
NC_000016.9:g.58579274C>T , CM000678.1:g.58579274C>T GRCh37
NC_000016.8:g.57136775C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000317147.10:c.4128G>A MANE Select ENSP00000320949.5:p.Leu1376=
ENST00000317147.9:c.4128G>A ENSP00000320949.5:p.Leu1376=
ENST00000441024.6:c.4128G>A ENSP00000413113.2:p.Leu1376=
ENST00000567133.1:c.247G>A
ENST00000567188.5:c.4113G>A ENSP00000456649.1:p.Leu1371=
ENST00000569240.5:c.4113G>A ENSP00000455635.1:p.Leu1371=
NM_001265612.1:c.4113G>A NP_001252541.1:p.Leu1371=
NM_016284.4:c.4128G>A NP_057368.3:p.Leu1376=
NM_206999.2:c.4128G>A NP_996882.1:p.Leu1376=
NR_049763.1:n.4446G>A
NM_016284.5:c.4128G>A MANE Select NP_057368.3:p.Leu1376=
NM_001265612.2:c.4113G>A NP_001252541.1:p.Leu1371=
NM_206999.3:c.4128G>A NP_996882.1:p.Leu1376=
NR_049763.2:n.4386G>A