Canonical Allele Identifier: CA433748921
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Linked Data

gnomAD v4: 3-51987167-C-T
MyVariant Identifiers: chr3:g.52021183C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51987167C>T , CM000665.2:g.51987167C>T GRCh38
NC_000003.11:g.52021183C>T , CM000665.1:g.52021183C>T GRCh37
NC_000003.10:g.51996223C>T NCBI36
NG_012036.1:g.8621C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000404366.7:c.678C>T (ACY1) ENSP00000384296.2:p.Ile226=
ENST00000464587.2:n.364C>T (ACY1)
ENST00000486081.6:c.*524C>T (ABHD14A-ACY1) ENSP00000420395.1:n.*524C>T
ENST00000635785.1:c.887+106C>T (ABHD14A-ACY1)
ENST00000635797.1:c.573C>T (ACY1) ENSP00000490007.1:p.Ile191=
ENST00000635937.1:c.*935C>T (ABHD14A-ACY1) ENSP00000489887.1:n.*935C>T
ENST00000635941.1:c.952C>T (ACY1) ENSP00000490309.1:n.952C>T
ENST00000635946.1:c.*1035C>T (ABHD14A-ACY1) ENSP00000490284.1:n.*1035C>T
ENST00000635951.1:c.*950C>T (ABHD14A-ACY1) ENSP00000490649.1:n.*950C>T
ENST00000635952.1:c.765C>T (ABHD14A-ACY1) ENSP00000490434.1:p.Ile255=
ENST00000636085.1:c.*609C>T (ABHD14A-ACY1) ENSP00000489981.1:n.*609C>T
ENST00000636089.1:c.*1015C>T (ABHD14A-ACY1) ENSP00000490657.1:n.*1015C>T
ENST00000636358.2:c.678C>T (ACY1) MANE Select ENSP00000490149.1:p.Ile226=
ENST00000636490.1:c.*1015C>T (ABHD14A-ACY1) ENSP00000490575.1:n.*1015C>T
ENST00000636556.1:c.*623C>T (ACY1) ENSP00000490500.1:n.*623C>T
ENST00000636646.1:c.*915C>T (ABHD14A-ACY1) ENSP00000490688.1:n.*915C>T
ENST00000636660.1:c.641C>T (ABHD14A-ACY1)
ENST00000636718.1:c.*1290C>T (ABHD14A-ACY1) ENSP00000490429.1:n.*1290C>T
ENST00000636826.1:c.*609C>T (ABHD14A-ACY1) ENSP00000489721.1:n.*609C>T
ENST00000636880.1:c.*388C>T (ACY1) ENSP00000489947.1:n.*388C>T
ENST00000636942.1:c.*559C>T (ABHD14A-ACY1) ENSP00000490848.1:n.*559C>T
ENST00000637025.1:c.*799C>T (ABHD14A-ACY1) ENSP00000490236.1:n.*799C>T
ENST00000637034.1:n.111C>T (ACY1)
ENST00000637130.1:c.*899C>T (ABHD14A-ACY1) ENSP00000490887.1:n.*899C>T
ENST00000637199.1:n.151C>T (ACY1)
ENST00000637222.1:c.678C>T (ABHD14A-ACY1) ENSP00000490353.1:p.Ile226=
ENST00000637349.1:c.*220+106C>T (ACY1) ENSP00000489688.1:n.*220+106C>T
ENST00000637460.1:n.712C>T (ACY1)
ENST00000637512.1:c.928C>T (ABHD14A-ACY1)
ENST00000637563.1:c.*1426C>T (ABHD14A-ACY1) ENSP00000490319.1:n.*1426C>T
ENST00000637696.1:c.*1035C>T (ABHD14A-ACY1) ENSP00000490554.1:n.*1035C>T
ENST00000637730.1:c.1211C>T (ABHD14A-ACY1)
ENST00000637778.1:c.*1426C>T (ABHD14A-ACY1) ENSP00000490052.1:n.*1426C>T
ENST00000637978.1:c.1247C>T (ABHD14A-ACY1)
ENST00000638096.1:n.569C>T (ACY1)
ENST00000638136.1:n.1094C>T (ACY1)
ENST00000404366.6:c.678C>T (ACY1) ENSP00000384296.2:p.Ile226=
ENST00000463721.5:c.*589C>T (ABHD14A-ACY1) ENSP00000417688.1:n.*589C>T
ENST00000463937.1:c.981C>T (ABHD14A-ACY1) ENSP00000420487.1:p.Ile327=
ENST00000464587.1:n.364C>T (ACY1)
ENST00000465121.5:n.751C>T (ACY1)
ENST00000476351.5:c.573C>T (ACY1) ENSP00000417056.1:p.Ile191=
ENST00000476854.5:c.657+106C>T (ACY1) ENSP00000419262.1:n.657+106C>T
ENST00000491318.5:c.584-142C>T (ACY1) ENSP00000418683.1:n.584-142C>T
ENST00000494103.5:c.462C>T (ACY1) ENSP00000417618.1:p.Ile154=
NM_000666.2:c.678C>T (ACY1) NP_000657.1:p.Ile226=
NM_001198895.1:c.678C>T (ACY1) NP_001185824.1:p.Ile226=
NM_001198896.1:c.462C>T (ACY1) NP_001185825.1:p.Ile154=
NM_001198897.1:c.657+106C>T (ACY1) NP_001185826.1:n.657+106C>T
NM_001198898.1:c.573C>T (ACY1) NP_001185827.1:p.Ile191=
NM_001316331.1:c.948C>T (ABHD14A-ACY1) NP_001303260.1:p.Ile316=
NM_000666.3:c.678C>T (ACY1) MANE Select NP_000657.1:p.Ile226=
NM_001198895.2:c.678C>T (ACY1) NP_001185824.1:p.Ile226=
NM_001198896.2:c.462C>T (ACY1) NP_001185825.1:p.Ile154=
NM_001198897.2:c.657+106C>T (ACY1) NP_001185826.1:n.657+106C>T
NM_001198898.2:c.573C>T (ACY1) NP_001185827.1:p.Ile191=
NM_001316331.2:c.948C>T (ABHD14A-ACY1) NP_001303260.1:p.Ile316=