Canonical Allele Identifier: CA8062615

Gene: CES1

Linked Data

• ClinVar Variation Id: 226014
• ClinVar RCV Id: RCV000211163 ; RCV000835716 ; RCV001788073
• dbSNP Id: rs71647871
• ExAC: 16:55857570 C / T
• gnomAD v2: 16-55857570-C-T
• gnomAD v3: 16-55823658-C-T
• gnomAD v4: 16-55823658-C-T
• MyVariant Identifiers: chr16:g.55857570C>T (hg19) ; chr16:g.55823658C>T (hg38)
• PubMed: PMID:22992668 ; PMID:23111421 ; PMID:23275066 ; PMID:25704243

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55823658C>T , CM000678.2:g.55823658C>T	GRCh38
NC_000016.9:g.55857570C>T , CM000678.1:g.55857570C>T	GRCh37
NC_000016.8:g.54415071C>T	NCBI36
NG_012057.1:g.14506G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360526.8:c.431G>A MANE Select	ENSP00000353720.4:p.Gly144Glu
ENST00000360526.7:c.431G>A	ENSP00000353720.3:p.Gly144Glu
ENST00000361503.8:c.428G>A	ENSP00000355193.4:p.Gly143Glu
ENST00000422046.6:c.428G>A	ENSP00000390492.2:p.Gly143Glu
ENST00000563005.5:n.264G>A
ENST00000565403.5:n.127G>A
ENST00000566555.1:n.458G>A
NM_001025194.1:c.428G>A	NP_001020365.1:p.Gly143Glu
NM_001025195.1:c.431G>A	NP_001020366.1:p.Gly144Glu
NM_001266.4:c.428G>A	NP_001257.4:p.Gly143Glu
XM_005255774.1:c.431G>A	XP_005255831.1:p.Gly144Glu
XM_011522816.1:c.431G>A	XP_011521118.1:p.Gly144Glu
XM_005255774.2:c.431G>A	XP_005255831.1:p.Gly144Glu
NM_001025194.2:c.428G>A	NP_001020365.1:p.Gly143Glu
NM_001025195.2:c.431G>A MANE Select	NP_001020366.1:p.Gly144Glu
NM_001266.5:c.428G>A	NP_001257.4:p.Gly143Glu