Canonical Allele Identifier: CA281675387

Gene: CNOT1

Linked Data

• dbSNP Id: rs573811634
• gnomAD v4: 16-58533312-C-A
• MyVariant Identifiers: chr16:g.58567216C>A (hg19) ; chr16:g.58533312C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.58533312C>A , CM000678.2:g.58533312C>A	GRCh38
NC_000016.9:g.58567216C>A , CM000678.1:g.58567216C>A	GRCh37
NC_000016.8:g.57124717C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317147.10:c.5895+835G>T MANE Select	ENSP00000320949.5:n.5895+835G>T
ENST00000317147.9:c.5895+835G>T	ENSP00000320949.5:n.5895+835G>T
ENST00000567188.5:c.5880+835G>T	ENSP00000456649.1:n.5880+835G>T
ENST00000568917.1:c.1035+835G>T	ENSP00000454611.1:n.1035+835G>T
ENST00000569240.5:c.5880+835G>T	ENSP00000455635.1:n.5880+835G>T
NM_001265612.1:c.5880+835G>T	NP_001252541.1:n.5880+835G>T
NM_016284.4:c.5895+835G>T	NP_057368.3:n.5895+835G>T
NR_049763.1:n.6213+835G>T
NM_016284.5:c.5895+835G>T MANE Select	NP_057368.3:n.5895+835G>T
NM_001265612.2:c.5880+835G>T	NP_001252541.1:n.5880+835G>T
NR_049763.2:n.6153+835G>T