Canonical Allele Identifier: CA353090684

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021075C>G (hg19) ; chr3:g.51987059C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987059C>G , CM000665.2:g.51987059C>G	GRCh38
NC_000003.11:g.52021075C>G , CM000665.1:g.52021075C>G	GRCh37
NC_000003.10:g.51996115C>G	NCBI36
NG_012036.1:g.8513C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.655C>G (ACY1)	ENSP00000384296.2:p.Leu219Val
ENST00000464587.2:n.341C>G (ACY1)
ENST00000486081.6:c.*501C>G (ABHD14A-ACY1)	ENSP00000420395.1:n.*501C>G
ENST00000635785.1:c.885C>G (ABHD14A-ACY1)
ENST00000635797.1:c.550C>G (ACY1)	ENSP00000490007.1:p.Leu184Val
ENST00000635937.1:c.*827C>G (ABHD14A-ACY1)	ENSP00000489887.1:n.*827C>G
ENST00000635941.1:c.844C>G (ACY1)	ENSP00000490309.1:n.844C>G
ENST00000635946.1:c.*927C>G (ABHD14A-ACY1)	ENSP00000490284.1:n.*927C>G
ENST00000635951.1:c.*927C>G (ABHD14A-ACY1)	ENSP00000490649.1:n.*927C>G
ENST00000635952.1:c.742C>G (ABHD14A-ACY1)	ENSP00000490434.1:p.Leu248Val
ENST00000636085.1:c.*501C>G (ABHD14A-ACY1)	ENSP00000489981.1:n.*501C>G
ENST00000636089.1:c.*992C>G (ABHD14A-ACY1)	ENSP00000490657.1:n.*992C>G
ENST00000636358.2:c.655C>G (ACY1) MANE Select	ENSP00000490149.1:p.Leu219Val
ENST00000636490.1:c.*992C>G (ABHD14A-ACY1)	ENSP00000490575.1:n.*992C>G
ENST00000636556.1:c.*600C>G (ACY1)	ENSP00000490500.1:n.*600C>G
ENST00000636646.1:c.*892C>G (ABHD14A-ACY1)	ENSP00000490688.1:n.*892C>G
ENST00000636660.1:c.533C>G (ABHD14A-ACY1)
ENST00000636718.1:c.*1182C>G (ABHD14A-ACY1)	ENSP00000490429.1:n.*1182C>G
ENST00000636826.1:c.*501C>G (ABHD14A-ACY1)	ENSP00000489721.1:n.*501C>G
ENST00000636880.1:c.*365C>G (ACY1)	ENSP00000489947.1:n.*365C>G
ENST00000636942.1:c.*536C>G (ABHD14A-ACY1)	ENSP00000490848.1:n.*536C>G
ENST00000637025.1:c.*691C>G (ABHD14A-ACY1)	ENSP00000490236.1:n.*691C>G
ENST00000637034.1:n.3C>G (ACY1)
ENST00000637130.1:c.*791C>G (ABHD14A-ACY1)	ENSP00000490887.1:n.*791C>G
ENST00000637199.1:n.128C>G (ACY1)
ENST00000637209.1:c.*365C>G (ACY1)	ENSP00000490708.1:n.*365C>G
ENST00000637222.1:c.655C>G (ABHD14A-ACY1)	ENSP00000490353.1:p.Leu219Val
ENST00000637251.1:n.1728C>G (ACY1)
ENST00000637349.1:c.*218C>G (ACY1)	ENSP00000489688.1:n.*218C>G
ENST00000637460.1:n.689C>G (ACY1)
ENST00000637461.1:c.502C>G (ABHD14A-ACY1)
ENST00000637512.1:c.820C>G (ABHD14A-ACY1)
ENST00000637563.1:c.*1318C>G (ABHD14A-ACY1)	ENSP00000490319.1:n.*1318C>G
ENST00000637696.1:c.*927C>G (ABHD14A-ACY1)	ENSP00000490554.1:n.*927C>G
ENST00000637730.1:c.1188C>G (ABHD14A-ACY1)
ENST00000637778.1:c.*1318C>G (ABHD14A-ACY1)	ENSP00000490052.1:n.*1318C>G
ENST00000637978.1:c.1224C>G (ABHD14A-ACY1)
ENST00000638096.1:n.461C>G (ACY1)
ENST00000638136.1:n.986C>G (ACY1)
ENST00000404366.6:c.655C>G (ACY1)	ENSP00000384296.2:p.Leu219Val
ENST00000463721.5:c.*566C>G (ABHD14A-ACY1)	ENSP00000417688.1:n.*566C>G
ENST00000463937.1:c.958C>G (ABHD14A-ACY1)	ENSP00000420487.1:p.Leu320Val
ENST00000464587.1:n.341C>G (ACY1)
ENST00000465121.5:n.728C>G (ACY1)
ENST00000469863.1:c.682C>G (ACY1)	ENSP00000419830.1:p.Leu228Val
ENST00000476351.5:c.550C>G (ACY1)	ENSP00000417056.1:p.Leu184Val
ENST00000476854.5:c.655C>G (ACY1)	ENSP00000419262.1:p.Leu219Val
ENST00000491318.5:c.584-250C>G (ACY1)	ENSP00000418683.1:n.584-250C>G
ENST00000494103.5:c.439C>G (ACY1)	ENSP00000417618.1:p.Leu147Val
NM_000666.2:c.655C>G (ACY1)	NP_000657.1:p.Leu219Val
NM_001198895.1:c.655C>G (ACY1)	NP_001185824.1:p.Leu219Val
NM_001198896.1:c.439C>G (ACY1)	NP_001185825.1:p.Leu147Val
NM_001198897.1:c.655C>G (ACY1)	NP_001185826.1:p.Leu219Val
NM_001198898.1:c.550C>G (ACY1)	NP_001185827.1:p.Leu184Val
NM_001316331.1:c.925C>G (ABHD14A-ACY1)	NP_001303260.1:p.Leu309Val
NM_000666.3:c.655C>G (ACY1) MANE Select	NP_000657.1:p.Leu219Val
NM_001198895.2:c.655C>G (ACY1)	NP_001185824.1:p.Leu219Val
NM_001198896.2:c.439C>G (ACY1)	NP_001185825.1:p.Leu147Val
NM_001198897.2:c.655C>G (ACY1)	NP_001185826.1:p.Leu219Val
NM_001198898.2:c.550C>G (ACY1)	NP_001185827.1:p.Leu184Val
NM_001316331.2:c.925C>G (ABHD14A-ACY1)	NP_001303260.1:p.Leu309Val