Canonical Allele Identifier: CA433748864

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021017C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987001C>G , CM000665.2:g.51987001C>G	GRCh38
NC_000003.11:g.52021017C>G , CM000665.1:g.52021017C>G	GRCh37
NC_000003.10:g.51996057C>G	NCBI36
NG_012036.1:g.8455C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.597C>G (ACY1)	ENSP00000384296.2:p.Thr199=
ENST00000464587.2:n.283C>G (ACY1)
ENST00000486081.6:c.*443C>G (ABHD14A-ACY1)	ENSP00000420395.1:n.*443C>G
ENST00000635785.1:c.827C>G (ABHD14A-ACY1)
ENST00000635797.1:c.492C>G (ACY1)	ENSP00000490007.1:p.Thr164=
ENST00000635937.1:c.*769C>G (ABHD14A-ACY1)	ENSP00000489887.1:n.*769C>G
ENST00000635941.1:c.786C>G (ACY1)	ENSP00000490309.1:n.786C>G
ENST00000635946.1:c.*869C>G (ABHD14A-ACY1)	ENSP00000490284.1:n.*869C>G
ENST00000635951.1:c.*869C>G (ABHD14A-ACY1)	ENSP00000490649.1:n.*869C>G
ENST00000635952.1:c.684C>G (ABHD14A-ACY1)	ENSP00000490434.1:p.Thr228=
ENST00000636085.1:c.*443C>G (ABHD14A-ACY1)	ENSP00000489981.1:n.*443C>G
ENST00000636089.1:c.*934C>G (ABHD14A-ACY1)	ENSP00000490657.1:n.*934C>G
ENST00000636358.2:c.597C>G (ACY1) MANE Select	ENSP00000490149.1:p.Thr199=
ENST00000636490.1:c.*934C>G (ABHD14A-ACY1)	ENSP00000490575.1:n.*934C>G
ENST00000636556.1:c.*542C>G (ACY1)	ENSP00000490500.1:n.*542C>G
ENST00000636646.1:c.*834C>G (ABHD14A-ACY1)	ENSP00000490688.1:n.*834C>G
ENST00000636660.1:c.475C>G (ABHD14A-ACY1)
ENST00000636718.1:c.*1124C>G (ABHD14A-ACY1)	ENSP00000490429.1:n.*1124C>G
ENST00000636826.1:c.*443C>G (ABHD14A-ACY1)	ENSP00000489721.1:n.*443C>G
ENST00000636880.1:c.*307C>G (ACY1)	ENSP00000489947.1:n.*307C>G
ENST00000636942.1:c.*478C>G (ABHD14A-ACY1)	ENSP00000490848.1:n.*478C>G
ENST00000637025.1:c.*633C>G (ABHD14A-ACY1)	ENSP00000490236.1:n.*633C>G
ENST00000637130.1:c.*733C>G (ABHD14A-ACY1)	ENSP00000490887.1:n.*733C>G
ENST00000637199.1:n.70C>G (ACY1)
ENST00000637209.1:c.*307C>G (ACY1)	ENSP00000490708.1:n.*307C>G
ENST00000637222.1:c.597C>G (ABHD14A-ACY1)	ENSP00000490353.1:p.Thr199=
ENST00000637251.1:n.1670C>G (ACY1)
ENST00000637349.1:c.*160C>G (ACY1)	ENSP00000489688.1:n.*160C>G
ENST00000637460.1:n.631C>G (ACY1)
ENST00000637461.1:c.444C>G (ABHD14A-ACY1)
ENST00000637512.1:c.762C>G (ABHD14A-ACY1)
ENST00000637563.1:c.*1260C>G (ABHD14A-ACY1)	ENSP00000490319.1:n.*1260C>G
ENST00000637696.1:c.*869C>G (ABHD14A-ACY1)	ENSP00000490554.1:n.*869C>G
ENST00000637730.1:c.1130C>G (ABHD14A-ACY1)
ENST00000637778.1:c.*1260C>G (ABHD14A-ACY1)	ENSP00000490052.1:n.*1260C>G
ENST00000637978.1:c.1166C>G (ABHD14A-ACY1)
ENST00000638096.1:n.403C>G (ACY1)
ENST00000638136.1:n.928C>G (ACY1)
ENST00000404366.6:c.597C>G (ACY1)	ENSP00000384296.2:p.Thr199=
ENST00000463721.5:c.*508C>G (ABHD14A-ACY1)	ENSP00000417688.1:n.*508C>G
ENST00000463937.1:c.900C>G (ABHD14A-ACY1)	ENSP00000420487.1:p.Thr300=
ENST00000464587.1:n.283C>G (ACY1)
ENST00000465121.5:n.670C>G (ACY1)
ENST00000469863.1:c.624C>G (ACY1)	ENSP00000419830.1:p.Thr208=
ENST00000476351.5:c.492C>G (ACY1)	ENSP00000417056.1:p.Thr164=
ENST00000476854.5:c.597C>G (ACY1)	ENSP00000419262.1:p.Thr199=
ENST00000491318.5:c.584-308C>G (ACY1)	ENSP00000418683.1:n.584-308C>G
ENST00000494103.5:c.381C>G (ACY1)	ENSP00000417618.1:p.Thr127=
NM_000666.2:c.597C>G (ACY1)	NP_000657.1:p.Thr199=
NM_001198895.1:c.597C>G (ACY1)	NP_001185824.1:p.Thr199=
NM_001198896.1:c.381C>G (ACY1)	NP_001185825.1:p.Thr127=
NM_001198897.1:c.597C>G (ACY1)	NP_001185826.1:p.Thr199=
NM_001198898.1:c.492C>G (ACY1)	NP_001185827.1:p.Thr164=
NM_001316331.1:c.867C>G (ABHD14A-ACY1)	NP_001303260.1:p.Thr289=
NM_000666.3:c.597C>G (ACY1) MANE Select	NP_000657.1:p.Thr199=
NM_001198895.2:c.597C>G (ACY1)	NP_001185824.1:p.Thr199=
NM_001198896.2:c.381C>G (ACY1)	NP_001185825.1:p.Thr127=
NM_001198897.2:c.597C>G (ACY1)	NP_001185826.1:p.Thr199=
NM_001198898.2:c.492C>G (ACY1)	NP_001185827.1:p.Thr164=
NM_001316331.2:c.867C>G (ABHD14A-ACY1)	NP_001303260.1:p.Thr289=