Canonical Allele Identifier: CA281675284

Gene: CNOT1

Linked Data

• dbSNP Id: rs533538234
• gnomAD v3: 16-58533140-G-C
• gnomAD v4: 16-58533140-G-C
• MyVariant Identifiers: chr16:g.58567044G>C (hg19) ; chr16:g.58533140G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.58533140G>C , CM000678.2:g.58533140G>C	GRCh38
NC_000016.9:g.58567044G>C , CM000678.1:g.58567044G>C	GRCh37
NC_000016.8:g.57124545G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317147.10:c.5896-745C>G MANE Select	ENSP00000320949.5:n.5896-745C>G
ENST00000317147.9:c.5896-745C>G	ENSP00000320949.5:n.5896-745C>G
ENST00000563130.5:n.26C>G
ENST00000567188.5:c.5881-745C>G	ENSP00000456649.1:n.5881-745C>G
ENST00000568917.1:c.1036-745C>G	ENSP00000454611.1:n.1036-745C>G
ENST00000569240.5:c.5881-745C>G	ENSP00000455635.1:n.5881-745C>G
NM_001265612.1:c.5881-745C>G	NP_001252541.1:n.5881-745C>G
NM_016284.4:c.5896-745C>G	NP_057368.3:n.5896-745C>G
NR_049763.1:n.6214-745C>G
NM_016284.5:c.5896-745C>G MANE Select	NP_057368.3:n.5896-745C>G
NM_001265612.2:c.5881-745C>G	NP_001252541.1:n.5881-745C>G
NR_049763.2:n.6154-745C>G