Canonical Allele Identifier: CA281675464

Gene: CNOT1

Linked Data

• dbSNP Id: rs555557166
• gnomAD v2: 16-58567321-A-G
• gnomAD v3: 16-58533417-A-G
• gnomAD v4: 16-58533417-A-G
• MyVariant Identifiers: chr16:g.58567321A>G (hg19) ; chr16:g.58533417A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.58533417A>G , CM000678.2:g.58533417A>G	GRCh38
NC_000016.9:g.58567321A>G , CM000678.1:g.58567321A>G	GRCh37
NC_000016.8:g.57124822A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000317147.10:c.5895+730T>C MANE Select	ENSP00000320949.5:n.5895+730T>C
ENST00000317147.9:c.5895+730T>C	ENSP00000320949.5:n.5895+730T>C
ENST00000567188.5:c.5880+730T>C	ENSP00000456649.1:n.5880+730T>C
ENST00000568917.1:c.1035+730T>C	ENSP00000454611.1:n.1035+730T>C
ENST00000569240.5:c.5880+730T>C	ENSP00000455635.1:n.5880+730T>C
NM_001265612.1:c.5880+730T>C	NP_001252541.1:n.5880+730T>C
NM_016284.4:c.5895+730T>C	NP_057368.3:n.5895+730T>C
NR_049763.1:n.6213+730T>C
NM_016284.5:c.5895+730T>C MANE Select	NP_057368.3:n.5895+730T>C
NM_001265612.2:c.5880+730T>C	NP_001252541.1:n.5880+730T>C
NR_049763.2:n.6153+730T>C