Canonical Allele Identifier: CA8062618
Gene: CES1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.55823661C>G
GRCh37 chr16:g.55857573C>G
Revel Score:
ENST00000360526 (MANE Select) 0.647
ENST00000361503 0.647
ENST00000422046 0.647
ENST00000426667 0.647
gnomAD v2:
16:55857573 C / G
gnomAD v3:
16:55823661 C / G
gnomAD v4:
chr16-55823661-C-G
Joint Max Group AF 0.00001747 (AFR)
Genomes Max Group AF 0.00001921 (AFR)
Exomes Max Group AF 0.00000385 (SAS)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000360526.8:c.428G>C MANE Select ENSP00000353720.4:p.Gly143Ala
ENST00000360526.7:c.428G>C ENSP00000353720.3:p.Gly143Ala
ENST00000361503.8:c.425G>C ENSP00000355193.4:p.Gly142Ala
ENST00000422046.6:c.425G>C ENSP00000390492.2:p.Gly142Ala
ENST00000563005.5:n.261G>C
ENST00000565403.5:n.124G>C
ENST00000566555.1:n.455G>C
NM_001025194.1:c.425G>C NP_001020365.1:p.Gly142Ala
NM_001025195.1:c.428G>C NP_001020366.1:p.Gly143Ala
NM_001266.4:c.425G>C NP_001257.4:p.Gly142Ala
XM_005255774.1:c.428G>C XP_005255831.1:p.Gly143Ala
XM_011522816.1:c.428G>C XP_011521118.1:p.Gly143Ala
XM_005255774.2:c.428G>C XP_005255831.1:p.Gly143Ala
NM_001025194.2:c.425G>C NP_001020365.1:p.Gly142Ala
NM_001025195.2:c.428G>C MANE Select NP_001020366.1:p.Gly143Ala
NM_001266.5:c.425G>C NP_001257.4:p.Gly142Ala
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