Canonical Allele Identifier: CA8062153

Gene: CES1

Linked Data

• dbSNP Id: rs2244613
• ExAC: 16:55844609 G / T
• gnomAD v2: 16-55844609-G-T
• gnomAD v3: 16-55810697-G-T
• gnomAD v4: 16-55810697-G-T
• MyVariant Identifiers: chr16:g.55844609G>T (hg19) ; chr16:g.55810697G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55810697G>T , CM000678.2:g.55810697G>T	GRCh38
NC_000016.9:g.55844609G>T , CM000678.1:g.55844609G>T	GRCh37
NC_000016.8:g.54402110G>T	NCBI36
NG_012057.1:g.27467C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000360526.8:c.1171-33C>A MANE Select	ENSP00000353720.4:n.1171-33C>A
ENST00000360526.7:c.1171-33C>A	ENSP00000353720.3:n.1171-33C>A
ENST00000361503.8:c.1168-33C>A	ENSP00000355193.4:n.1168-33C>A
ENST00000422046.6:c.1165-33C>A	ENSP00000390492.2:n.1165-33C>A
ENST00000565568.1:c.72+2206C>A	ENSP00000455902.1:n.72+2206C>A
ENST00000569260.1:c.406-33C>A
NM_001025194.1:c.1168-33C>A	NP_001020365.1:n.1168-33C>A
NM_001025195.1:c.1171-33C>A	NP_001020366.1:n.1171-33C>A
NM_001266.4:c.1165-33C>A	NP_001257.4:n.1165-33C>A
XM_005255774.1:c.1168-33C>A	XP_005255831.1:n.1168-33C>A
XM_005255774.2:c.1168-33C>A	XP_005255831.1:n.1168-33C>A
NM_001025194.2:c.1168-33C>A	NP_001020365.1:n.1168-33C>A
NM_001025195.2:c.1171-33C>A MANE Select	NP_001020366.1:n.1171-33C>A
NM_001266.5:c.1165-33C>A	NP_001257.4:n.1165-33C>A