Canonical Allele Identifier: CA8062617
Gene: CES1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.55823661C>A
GRCh37 chr16:g.55857573C>A
Revel Score:
ENST00000360526 (MANE Select) 0.626
ENST00000361503 0.626
ENST00000422046 0.626
ENST00000426667 0.626
gnomAD v2:
16:55857573 C / A
gnomAD v3:
16:55823661 C / A
gnomAD v4:
chr16-55823661-C-A
Joint Max Group AF 0.00003232 (AMR)
Exomes Max Group AF 0.00004359 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55823661C>A , CM000678.2:g.55823661C>A GRCh38
NC_000016.9:g.55857573C>A , CM000678.1:g.55857573C>A GRCh37
NC_000016.8:g.54415074C>A NCBI36
NG_012057.1:g.14503G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360526.8:c.428G>T MANE Select ENSP00000353720.4:p.Gly143Val
ENST00000360526.7:c.428G>T ENSP00000353720.3:p.Gly143Val
ENST00000361503.8:c.425G>T ENSP00000355193.4:p.Gly142Val
ENST00000422046.6:c.425G>T ENSP00000390492.2:p.Gly142Val
ENST00000563005.5:n.261G>T
ENST00000565403.5:n.124G>T
ENST00000566555.1:n.455G>T
NM_001025194.1:c.425G>T NP_001020365.1:p.Gly142Val
NM_001025195.1:c.428G>T NP_001020366.1:p.Gly143Val
NM_001266.4:c.425G>T NP_001257.4:p.Gly142Val
XM_005255774.1:c.428G>T XP_005255831.1:p.Gly143Val
XM_011522816.1:c.428G>T XP_011521118.1:p.Gly143Val
XM_005255774.2:c.428G>T XP_005255831.1:p.Gly143Val
NM_001025194.2:c.425G>T NP_001020365.1:p.Gly142Val
NM_001025195.2:c.428G>T MANE Select NP_001020366.1:p.Gly143Val
NM_001266.5:c.425G>T NP_001257.4:p.Gly142Val
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