Canonical Allele Identifier: CA1364649868
Community Standard Title: NM_000666.3(ACY1):c.1057C= (p.Arg353=)
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51988821C= , CM000665.2:g.51988821C= GRCh38
NC_000003.11:g.52022837C= , CM000665.1:g.52022837C= GRCh37
NC_000003.10:g.51997877C= NCBI36
NG_012036.1:g.10275C=

Transcript Alleles

HGVS Amino-acid Change
NM_000666.3:c.1057C= (ACY1) MANE Select NP_000657.1:p.Arg353=
ENST00000636358.2:c.1057C= (ACY1) MANE Select ENSP00000490149.1:p.Arg353=
NM_000666.2:c.1057C= (ACY1) NP_000657.1:p.Arg353=
NM_001198895.1:c.1057C= (ACY1) NP_001185824.1:p.Arg353=
NM_001198895.2:c.1057C= (ACY1) NP_001185824.1:p.Arg353=
NM_001198896.1:c.841C= (ACY1) NP_001185825.1:p.Arg281=
NM_001198896.2:c.841C= (ACY1) NP_001185825.1:p.Arg281=
NM_001198897.1:c.862C= (ACY1) NP_001185826.1:p.Arg288=
NM_001198897.2:c.862C= (ACY1) NP_001185826.1:p.Arg288=
NM_001198898.1:c.952C= (ACY1) NP_001185827.1:p.Arg318=
NM_001198898.2:c.952C= (ACY1) NP_001185827.1:p.Arg318=
NM_001316331.1:c.1327C= (ABHD14A-ACY1) NP_001303260.1:p.Arg443=
NM_001316331.2:c.1327C= (ABHD14A-ACY1) NP_001303260.1:p.Arg443=
ENST00000404366.6:c.1057C= (ACY1) ENSP00000384296.2:p.Arg353=
ENST00000404366.7:c.1057C= (ACY1) ENSP00000384296.2:p.Arg353=
ENST00000463721.5:c.*968C= (ABHD14A-ACY1) ENSP00000417688.1:n.*968C=
ENST00000463937.1:c.1360C= (ABHD14A-ACY1) ENSP00000420487.1:p.Arg454=
ENST00000476351.5:c.952C= (ACY1) ENSP00000417056.1:p.Arg318=
ENST00000476854.5:c.862C= (ACY1) ENSP00000419262.1:p.Arg288=
ENST00000490244.1:n.520C= (ACY1)
ENST00000490244.2:n.520C= (ACY1)
ENST00000491318.5:c.*327C= (ACY1) ENSP00000418683.1:n.*327C=
ENST00000494103.5:c.841C= (ACY1) ENSP00000417618.1:p.Arg281=
ENST00000635797.1:c.952C= (ACY1) ENSP00000490007.1:p.Arg318=
ENST00000635937.1:c.*2325C= (ABHD14A-ACY1) ENSP00000489887.1:n.*2325C=
ENST00000635941.1:c.1443C= (ACY1) ENSP00000490309.1:n.1443C=
ENST00000635946.1:c.*1628C= (ABHD14A-ACY1) ENSP00000490284.1:n.*1628C=
ENST00000635951.1:c.*1329C= (ABHD14A-ACY1) ENSP00000490649.1:n.*1329C=
ENST00000636089.1:c.*1394C= (ABHD14A-ACY1) ENSP00000490657.1:n.*1394C=
ENST00000636490.1:c.*2293C= (ABHD14A-ACY1) ENSP00000490575.1:n.*2293C=
ENST00000636646.1:c.*1294C= (ABHD14A-ACY1) ENSP00000490688.1:n.*1294C=
ENST00000636660.1:c.1020C= (ABHD14A-ACY1)
ENST00000636718.1:c.*1669C= (ABHD14A-ACY1) ENSP00000490429.1:n.*1669C=
ENST00000636826.1:c.*2101C= (ABHD14A-ACY1) ENSP00000489721.1:n.*2101C=
ENST00000636880.1:c.*767C= (ACY1) ENSP00000489947.1:n.*767C=
ENST00000636942.1:c.*938C= (ABHD14A-ACY1) ENSP00000490848.1:n.*938C=
ENST00000637025.1:c.*2291C= (ABHD14A-ACY1) ENSP00000490236.1:n.*2291C=
ENST00000637034.1:n.490C= (ACY1)
ENST00000637130.1:c.*2289C= (ABHD14A-ACY1) ENSP00000490887.1:n.*2289C=
ENST00000637149.1:c.148C= (ACY1)
ENST00000637199.1:n.530C= (ACY1)
ENST00000637512.1:c.1307C= (ABHD14A-ACY1)
ENST00000637563.1:c.*1917C= (ABHD14A-ACY1) ENSP00000490319.1:n.*1917C=
ENST00000637696.1:c.*1526C= (ABHD14A-ACY1) ENSP00000490554.1:n.*1526C=
ENST00000637730.1:c.2489C= (ABHD14A-ACY1)
ENST00000637746.1:n.430C= (ACY1)
ENST00000637778.1:c.*2816C= (ABHD14A-ACY1) ENSP00000490052.1:n.*2816C=
ENST00000637978.1:c.1626C= (ABHD14A-ACY1)
ENST00000638077.1:n.187C= (ACY1)
ENST00000638136.1:n.1585C= (ACY1)