Canonical Allele Identifier: CA74718597
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Linked Data

dbSNP Id: rs1015701713
gnomAD v3: 3-51987163-C-T
gnomAD v4: 3-51987163-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51987163C>T , CM000665.2:g.51987163C>T GRCh38
NC_000003.11:g.52021179C>T , CM000665.1:g.52021179C>T GRCh37
NC_000003.10:g.51996219C>T NCBI36
NG_012036.1:g.8617C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000404366.7:c.674C>T (ACY1) ENSP00000384296.2:p.Ser225Phe
ENST00000464587.2:n.360C>T (ACY1)
ENST00000486081.6:c.*520C>T (ABHD14A-ACY1) ENSP00000420395.1:n.*520C>T
ENST00000635785.1:c.887+102C>T (ABHD14A-ACY1)
ENST00000635797.1:c.569C>T (ACY1) ENSP00000490007.1:p.Ser190Phe
ENST00000635937.1:c.*931C>T (ABHD14A-ACY1) ENSP00000489887.1:n.*931C>T
ENST00000635941.1:c.948C>T (ACY1) ENSP00000490309.1:n.948C>T
ENST00000635946.1:c.*1031C>T (ABHD14A-ACY1) ENSP00000490284.1:n.*1031C>T
ENST00000635951.1:c.*946C>T (ABHD14A-ACY1) ENSP00000490649.1:n.*946C>T
ENST00000635952.1:c.761C>T (ABHD14A-ACY1) ENSP00000490434.1:p.Ser254Phe
ENST00000636085.1:c.*605C>T (ABHD14A-ACY1) ENSP00000489981.1:n.*605C>T
ENST00000636089.1:c.*1011C>T (ABHD14A-ACY1) ENSP00000490657.1:n.*1011C>T
ENST00000636358.2:c.674C>T (ACY1) MANE Select ENSP00000490149.1:p.Ser225Phe
ENST00000636490.1:c.*1011C>T (ABHD14A-ACY1) ENSP00000490575.1:n.*1011C>T
ENST00000636556.1:c.*619C>T (ACY1) ENSP00000490500.1:n.*619C>T
ENST00000636646.1:c.*911C>T (ABHD14A-ACY1) ENSP00000490688.1:n.*911C>T
ENST00000636660.1:c.637C>T (ABHD14A-ACY1)
ENST00000636718.1:c.*1286C>T (ABHD14A-ACY1) ENSP00000490429.1:n.*1286C>T
ENST00000636826.1:c.*605C>T (ABHD14A-ACY1) ENSP00000489721.1:n.*605C>T
ENST00000636880.1:c.*384C>T (ACY1) ENSP00000489947.1:n.*384C>T
ENST00000636942.1:c.*555C>T (ABHD14A-ACY1) ENSP00000490848.1:n.*555C>T
ENST00000637025.1:c.*795C>T (ABHD14A-ACY1) ENSP00000490236.1:n.*795C>T
ENST00000637034.1:n.107C>T (ACY1)
ENST00000637130.1:c.*895C>T (ABHD14A-ACY1) ENSP00000490887.1:n.*895C>T
ENST00000637199.1:n.147C>T (ACY1)
ENST00000637222.1:c.674C>T (ABHD14A-ACY1) ENSP00000490353.1:p.Ser225Phe
ENST00000637349.1:c.*220+102C>T (ACY1) ENSP00000489688.1:n.*220+102C>T
ENST00000637460.1:n.708C>T (ACY1)
ENST00000637512.1:c.924C>T (ABHD14A-ACY1)
ENST00000637563.1:c.*1422C>T (ABHD14A-ACY1) ENSP00000490319.1:n.*1422C>T
ENST00000637696.1:c.*1031C>T (ABHD14A-ACY1) ENSP00000490554.1:n.*1031C>T
ENST00000637730.1:c.1207C>T (ABHD14A-ACY1)
ENST00000637778.1:c.*1422C>T (ABHD14A-ACY1) ENSP00000490052.1:n.*1422C>T
ENST00000637978.1:c.1243C>T (ABHD14A-ACY1)
ENST00000638096.1:n.565C>T (ACY1)
ENST00000638136.1:n.1090C>T (ACY1)
ENST00000404366.6:c.674C>T (ACY1) ENSP00000384296.2:p.Ser225Phe
ENST00000463721.5:c.*585C>T (ABHD14A-ACY1) ENSP00000417688.1:n.*585C>T
ENST00000463937.1:c.977C>T (ABHD14A-ACY1) ENSP00000420487.1:p.Ser326Phe
ENST00000464587.1:n.360C>T (ACY1)
ENST00000465121.5:n.747C>T (ACY1)
ENST00000476351.5:c.569C>T (ACY1) ENSP00000417056.1:p.Ser190Phe
ENST00000476854.5:c.657+102C>T (ACY1) ENSP00000419262.1:n.657+102C>T
ENST00000491318.5:c.584-146C>T (ACY1) ENSP00000418683.1:n.584-146C>T
ENST00000494103.5:c.458C>T (ACY1) ENSP00000417618.1:p.Ser153Phe
NM_000666.2:c.674C>T (ACY1) NP_000657.1:p.Ser225Phe
NM_001198895.1:c.674C>T (ACY1) NP_001185824.1:p.Ser225Phe
NM_001198896.1:c.458C>T (ACY1) NP_001185825.1:p.Ser153Phe
NM_001198897.1:c.657+102C>T (ACY1) NP_001185826.1:n.657+102C>T
NM_001198898.1:c.569C>T (ACY1) NP_001185827.1:p.Ser190Phe
NM_001316331.1:c.944C>T (ABHD14A-ACY1) NP_001303260.1:p.Ser315Phe
NM_000666.3:c.674C>T (ACY1) MANE Select NP_000657.1:p.Ser225Phe
NM_001198895.2:c.674C>T (ACY1) NP_001185824.1:p.Ser225Phe
NM_001198896.2:c.458C>T (ACY1) NP_001185825.1:p.Ser153Phe
NM_001198897.2:c.657+102C>T (ACY1) NP_001185826.1:n.657+102C>T
NM_001198898.2:c.569C>T (ACY1) NP_001185827.1:p.Ser190Phe
NM_001316331.2:c.944C>T (ABHD14A-ACY1) NP_001303260.1:p.Ser315Phe