Canonical Allele Identifier: CA8062615
Gene: CES1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.55823658C>T
GRCh37 chr16:g.55857570C>T
Revel Score:
ENST00000360526 (MANE Select) 0.240
ENST00000361503 0.240
ENST00000422046 0.240
ENST00000426667 0.240
gnomAD v2:
16:55857570 C / T
gnomAD v3:
16:55823658 C / T
gnomAD v4:
chr16-55823658-C-T
Joint Max Group AF 0.01279977 (NFE)
Genomes Max Group AF 0.01406032 (NFE)
Exomes Max Group AF 0.01268172 (NFE)
JSON-LD

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
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