Canonical Allele Identifier: CA433748919
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.52021180C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51987164C>G , CM000665.2:g.51987164C>G GRCh38
NC_000003.11:g.52021180C>G , CM000665.1:g.52021180C>G GRCh37
NC_000003.10:g.51996220C>G NCBI36
NG_012036.1:g.8618C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000404366.7:c.675C>G (ACY1) ENSP00000384296.2:p.Ser225=
ENST00000464587.2:n.361C>G (ACY1)
ENST00000486081.6:c.*521C>G (ABHD14A-ACY1) ENSP00000420395.1:n.*521C>G
ENST00000635785.1:c.887+103C>G (ABHD14A-ACY1)
ENST00000635797.1:c.570C>G (ACY1) ENSP00000490007.1:p.Ser190=
ENST00000635937.1:c.*932C>G (ABHD14A-ACY1) ENSP00000489887.1:n.*932C>G
ENST00000635941.1:c.949C>G (ACY1) ENSP00000490309.1:n.949C>G
ENST00000635946.1:c.*1032C>G (ABHD14A-ACY1) ENSP00000490284.1:n.*1032C>G
ENST00000635951.1:c.*947C>G (ABHD14A-ACY1) ENSP00000490649.1:n.*947C>G
ENST00000635952.1:c.762C>G (ABHD14A-ACY1) ENSP00000490434.1:p.Ser254=
ENST00000636085.1:c.*606C>G (ABHD14A-ACY1) ENSP00000489981.1:n.*606C>G
ENST00000636089.1:c.*1012C>G (ABHD14A-ACY1) ENSP00000490657.1:n.*1012C>G
ENST00000636358.2:c.675C>G (ACY1) MANE Select ENSP00000490149.1:p.Ser225=
ENST00000636490.1:c.*1012C>G (ABHD14A-ACY1) ENSP00000490575.1:n.*1012C>G
ENST00000636556.1:c.*620C>G (ACY1) ENSP00000490500.1:n.*620C>G
ENST00000636646.1:c.*912C>G (ABHD14A-ACY1) ENSP00000490688.1:n.*912C>G
ENST00000636660.1:c.638C>G (ABHD14A-ACY1)
ENST00000636718.1:c.*1287C>G (ABHD14A-ACY1) ENSP00000490429.1:n.*1287C>G
ENST00000636826.1:c.*606C>G (ABHD14A-ACY1) ENSP00000489721.1:n.*606C>G
ENST00000636880.1:c.*385C>G (ACY1) ENSP00000489947.1:n.*385C>G
ENST00000636942.1:c.*556C>G (ABHD14A-ACY1) ENSP00000490848.1:n.*556C>G
ENST00000637025.1:c.*796C>G (ABHD14A-ACY1) ENSP00000490236.1:n.*796C>G
ENST00000637034.1:n.108C>G (ACY1)
ENST00000637130.1:c.*896C>G (ABHD14A-ACY1) ENSP00000490887.1:n.*896C>G
ENST00000637199.1:n.148C>G (ACY1)
ENST00000637222.1:c.675C>G (ABHD14A-ACY1) ENSP00000490353.1:p.Ser225=
ENST00000637349.1:c.*220+103C>G (ACY1) ENSP00000489688.1:n.*220+103C>G
ENST00000637460.1:n.709C>G (ACY1)
ENST00000637512.1:c.925C>G (ABHD14A-ACY1)
ENST00000637563.1:c.*1423C>G (ABHD14A-ACY1) ENSP00000490319.1:n.*1423C>G
ENST00000637696.1:c.*1032C>G (ABHD14A-ACY1) ENSP00000490554.1:n.*1032C>G
ENST00000637730.1:c.1208C>G (ABHD14A-ACY1)
ENST00000637778.1:c.*1423C>G (ABHD14A-ACY1) ENSP00000490052.1:n.*1423C>G
ENST00000637978.1:c.1244C>G (ABHD14A-ACY1)
ENST00000638096.1:n.566C>G (ACY1)
ENST00000638136.1:n.1091C>G (ACY1)
ENST00000404366.6:c.675C>G (ACY1) ENSP00000384296.2:p.Ser225=
ENST00000463721.5:c.*586C>G (ABHD14A-ACY1) ENSP00000417688.1:n.*586C>G
ENST00000463937.1:c.978C>G (ABHD14A-ACY1) ENSP00000420487.1:p.Ser326=
ENST00000464587.1:n.361C>G (ACY1)
ENST00000465121.5:n.748C>G (ACY1)
ENST00000476351.5:c.570C>G (ACY1) ENSP00000417056.1:p.Ser190=
ENST00000476854.5:c.657+103C>G (ACY1) ENSP00000419262.1:n.657+103C>G
ENST00000491318.5:c.584-145C>G (ACY1) ENSP00000418683.1:n.584-145C>G
ENST00000494103.5:c.459C>G (ACY1) ENSP00000417618.1:p.Ser153=
NM_000666.2:c.675C>G (ACY1) NP_000657.1:p.Ser225=
NM_001198895.1:c.675C>G (ACY1) NP_001185824.1:p.Ser225=
NM_001198896.1:c.459C>G (ACY1) NP_001185825.1:p.Ser153=
NM_001198897.1:c.657+103C>G (ACY1) NP_001185826.1:n.657+103C>G
NM_001198898.1:c.570C>G (ACY1) NP_001185827.1:p.Ser190=
NM_001316331.1:c.945C>G (ABHD14A-ACY1) NP_001303260.1:p.Ser315=
NM_000666.3:c.675C>G (ACY1) MANE Select NP_000657.1:p.Ser225=
NM_001198895.2:c.675C>G (ACY1) NP_001185824.1:p.Ser225=
NM_001198896.2:c.459C>G (ACY1) NP_001185825.1:p.Ser153=
NM_001198897.2:c.657+103C>G (ACY1) NP_001185826.1:n.657+103C>G
NM_001198898.2:c.570C>G (ACY1) NP_001185827.1:p.Ser190=
NM_001316331.2:c.945C>G (ABHD14A-ACY1) NP_001303260.1:p.Ser315=