Canonical Allele Identifier: CA2838009937

Gene: CES1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.55827882A>C , CM000678.2:g.55827882A>C	GRCh38
NC_000016.9:g.55861794A>C , CM000678.1:g.55861794A>C	GRCh37
NC_000016.8:g.54419295A>C	NCBI36
NG_012057.1:g.10282T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001025195.2:c.260+885T>G MANE Select	NP_001020366.1:n.260+885T>G
ENST00000360526.8:c.260+885T>G MANE Select	ENSP00000353720.4:n.260+885T>G
NM_001025194.1:c.257+885T>G	NP_001020365.1:n.257+885T>G
NM_001025194.2:c.257+885T>G	NP_001020365.1:n.257+885T>G
NM_001025195.1:c.260+885T>G	NP_001020366.1:n.260+885T>G
NM_001266.4:c.257+885T>G	NP_001257.4:n.257+885T>G
NM_001266.5:c.257+885T>G	NP_001257.4:n.257+885T>G
ENST00000360526.7:c.260+885T>G	ENSP00000353720.3:n.260+885T>G
ENST00000361503.8:c.257+885T>G	ENSP00000355193.4:n.257+885T>G
ENST00000422046.6:c.257+885T>G	ENSP00000390492.2:n.257+885T>G
ENST00000563005.5:n.94-1587T>G
ENST00000565403.5:n.102-4199T>G
ENST00000566555.1:n.287+7T>G
XM_005255774.1:c.260+885T>G	XP_005255831.1:n.260+885T>G
XM_005255774.2:c.260+885T>G	XP_005255831.1:n.260+885T>G
XM_011522816.1:c.260+885T>G	XP_011521118.1:n.260+885T>G