Canonical Allele Identifier: CA2428758
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51988938C>T , CM000665.2:g.51988938C>T GRCh38
NC_000003.11:g.52022954C>T , CM000665.1:g.52022954C>T GRCh37
NC_000003.10:g.51997994C>T NCBI36
NG_012036.1:g.10392C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000404366.7:c.1090C>T (ACY1) ENSP00000384296.2:p.Pro364Ser
ENST00000490244.2:n.553C>T (ACY1)
ENST00000635797.1:c.985C>T (ACY1) ENSP00000490007.1:p.Pro329Ser
ENST00000635937.1:c.*2358C>T (ABHD14A-ACY1) ENSP00000489887.1:n.*2358C>T
ENST00000635941.1:c.1476C>T (ACY1) ENSP00000490309.1:n.1476C>T
ENST00000635946.1:c.*1661C>T (ABHD14A-ACY1) ENSP00000490284.1:n.*1661C>T
ENST00000635951.1:c.*1362C>T (ABHD14A-ACY1) ENSP00000490649.1:n.*1362C>T
ENST00000636089.1:c.*1427C>T (ABHD14A-ACY1) ENSP00000490657.1:n.*1427C>T
ENST00000636358.2:c.1090C>T (ACY1) MANE Select ENSP00000490149.1:p.Pro364Ser
ENST00000636490.1:c.*2326C>T (ABHD14A-ACY1) ENSP00000490575.1:n.*2326C>T
ENST00000636646.1:c.*1327C>T (ABHD14A-ACY1) ENSP00000490688.1:n.*1327C>T
ENST00000636660.1:c.1053C>T (ABHD14A-ACY1)
ENST00000636718.1:c.*1702C>T (ABHD14A-ACY1) ENSP00000490429.1:n.*1702C>T
ENST00000636826.1:c.*2134C>T (ABHD14A-ACY1) ENSP00000489721.1:n.*2134C>T
ENST00000636880.1:c.*800C>T (ACY1) ENSP00000489947.1:n.*800C>T
ENST00000636942.1:c.*971C>T (ABHD14A-ACY1) ENSP00000490848.1:n.*971C>T
ENST00000637025.1:c.*2324C>T (ABHD14A-ACY1) ENSP00000490236.1:n.*2324C>T
ENST00000637034.1:n.523C>T (ACY1)
ENST00000637130.1:c.*2322C>T (ABHD14A-ACY1) ENSP00000490887.1:n.*2322C>T
ENST00000637149.1:c.181C>T (ACY1)
ENST00000637199.1:n.563C>T (ACY1)
ENST00000637512.1:c.1340C>T (ABHD14A-ACY1)
ENST00000637563.1:c.*1950C>T (ABHD14A-ACY1) ENSP00000490319.1:n.*1950C>T
ENST00000637696.1:c.*1559C>T (ABHD14A-ACY1) ENSP00000490554.1:n.*1559C>T
ENST00000637730.1:c.2522C>T (ABHD14A-ACY1)
ENST00000637746.1:n.463C>T (ACY1)
ENST00000637778.1:c.*2849C>T (ABHD14A-ACY1) ENSP00000490052.1:n.*2849C>T
ENST00000637978.1:c.1659C>T (ABHD14A-ACY1)
ENST00000638077.1:n.220C>T (ACY1)
ENST00000638136.1:n.1618C>T (ACY1)
ENST00000404366.6:c.1090C>T (ACY1) ENSP00000384296.2:p.Pro364Ser
ENST00000463721.5:c.*1001C>T (ABHD14A-ACY1) ENSP00000417688.1:n.*1001C>T
ENST00000463937.1:c.1393C>T (ABHD14A-ACY1) ENSP00000420487.1:p.Pro465Ser
ENST00000476351.5:c.985C>T (ACY1) ENSP00000417056.1:p.Pro329Ser
ENST00000476854.5:c.895C>T (ACY1) ENSP00000419262.1:p.Pro299Ser
ENST00000490244.1:n.553C>T (ACY1)
ENST00000491318.5:c.*360C>T (ACY1) ENSP00000418683.1:n.*360C>T
ENST00000494103.5:c.874C>T (ACY1) ENSP00000417618.1:p.Pro292Ser
NM_000666.2:c.1090C>T (ACY1) NP_000657.1:p.Pro364Ser
NM_001198895.1:c.1090C>T (ACY1) NP_001185824.1:p.Pro364Ser
NM_001198896.1:c.874C>T (ACY1) NP_001185825.1:p.Pro292Ser
NM_001198897.1:c.895C>T (ACY1) NP_001185826.1:p.Pro299Ser
NM_001198898.1:c.985C>T (ACY1) NP_001185827.1:p.Pro329Ser
NM_001316331.1:c.1360C>T (ABHD14A-ACY1) NP_001303260.1:p.Pro454Ser
NM_000666.3:c.1090C>T (ACY1) MANE Select NP_000657.1:p.Pro364Ser
NM_001198895.2:c.1090C>T (ACY1) NP_001185824.1:p.Pro364Ser
NM_001198896.2:c.874C>T (ACY1) NP_001185825.1:p.Pro292Ser
NM_001198897.2:c.895C>T (ACY1) NP_001185826.1:p.Pro299Ser
NM_001198898.2:c.985C>T (ACY1) NP_001185827.1:p.Pro329Ser
NM_001316331.2:c.1360C>T (ABHD14A-ACY1) NP_001303260.1:p.Pro454Ser