Canonical Allele Identifier: CA722175610

Gene: CNOT1

Linked Data

• dbSNP Id: rs1421179890
• gnomAD v4: 16-58533205-A-G
• MyVariant Identifiers: chr16:g.58567109A>G (hg19) ; chr16:g.58533205A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.58533205A>G , CM000678.2:g.58533205A>G	GRCh38
NC_000016.9:g.58567109A>G , CM000678.1:g.58567109A>G	GRCh37
NC_000016.8:g.57124610A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000317147.10:c.5896-810T>C MANE Select	ENSP00000320949.5:n.5896-810T>C
ENST00000317147.9:c.5896-810T>C	ENSP00000320949.5:n.5896-810T>C
ENST00000567188.5:c.5881-810T>C	ENSP00000456649.1:n.5881-810T>C
ENST00000568917.1:c.1036-810T>C	ENSP00000454611.1:n.1036-810T>C
ENST00000569240.5:c.5881-810T>C	ENSP00000455635.1:n.5881-810T>C
NM_001265612.1:c.5881-810T>C	NP_001252541.1:n.5881-810T>C
NM_016284.4:c.5896-810T>C	NP_057368.3:n.5896-810T>C
NR_049763.1:n.6214-810T>C
NM_016284.5:c.5896-810T>C MANE Select	NP_057368.3:n.5896-810T>C
NM_001265612.2:c.5881-810T>C	NP_001252541.1:n.5881-810T>C
NR_049763.2:n.6154-810T>C