Canonical Allele Identifier: CA353091047
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51987180G>T , CM000665.2:g.51987180G>T GRCh38
NC_000003.11:g.52021196G>T , CM000665.1:g.52021196G>T GRCh37
NC_000003.10:g.51996236G>T NCBI36
NG_012036.1:g.8634G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000404366.7:c.691G>T (ACY1) ENSP00000384296.2:p.Glu231Ter
ENST00000464587.2:n.377G>T (ACY1)
ENST00000486081.6:c.*537G>T (ABHD14A-ACY1) ENSP00000420395.1:n.*537G>T
ENST00000635785.1:c.887+119G>T (ABHD14A-ACY1)
ENST00000635797.1:c.586G>T (ACY1) ENSP00000490007.1:p.Glu196Ter
ENST00000635937.1:c.*948G>T (ABHD14A-ACY1) ENSP00000489887.1:n.*948G>T
ENST00000635941.1:c.965G>T (ACY1) ENSP00000490309.1:n.965G>T
ENST00000635946.1:c.*1048G>T (ABHD14A-ACY1) ENSP00000490284.1:n.*1048G>T
ENST00000635951.1:c.*963G>T (ABHD14A-ACY1) ENSP00000490649.1:n.*963G>T
ENST00000635952.1:c.778G>T (ABHD14A-ACY1) ENSP00000490434.1:p.Glu260Ter
ENST00000636089.1:c.*1028G>T (ABHD14A-ACY1) ENSP00000490657.1:n.*1028G>T
ENST00000636358.2:c.691G>T (ACY1) MANE Select ENSP00000490149.1:p.Glu231Ter
ENST00000636490.1:c.*1028G>T (ABHD14A-ACY1) ENSP00000490575.1:n.*1028G>T
ENST00000636556.1:c.*636G>T (ACY1) ENSP00000490500.1:n.*636G>T
ENST00000636646.1:c.*928G>T (ABHD14A-ACY1) ENSP00000490688.1:n.*928G>T
ENST00000636660.1:c.654G>T (ABHD14A-ACY1)
ENST00000636718.1:c.*1303G>T (ABHD14A-ACY1) ENSP00000490429.1:n.*1303G>T
ENST00000636826.1:c.*622G>T (ABHD14A-ACY1) ENSP00000489721.1:n.*622G>T
ENST00000636880.1:c.*401G>T (ACY1) ENSP00000489947.1:n.*401G>T
ENST00000636942.1:c.*572G>T (ABHD14A-ACY1) ENSP00000490848.1:n.*572G>T
ENST00000637025.1:c.*812G>T (ABHD14A-ACY1) ENSP00000490236.1:n.*812G>T
ENST00000637034.1:n.124G>T (ACY1)
ENST00000637130.1:c.*912G>T (ABHD14A-ACY1) ENSP00000490887.1:n.*912G>T
ENST00000637199.1:n.164G>T (ACY1)
ENST00000637222.1:c.691G>T (ABHD14A-ACY1) ENSP00000490353.1:p.Glu231Ter
ENST00000637349.1:c.*220+119G>T (ACY1) ENSP00000489688.1:n.*220+119G>T
ENST00000637460.1:n.725G>T (ACY1)
ENST00000637512.1:c.941G>T (ABHD14A-ACY1)
ENST00000637563.1:c.*1439G>T (ABHD14A-ACY1) ENSP00000490319.1:n.*1439G>T
ENST00000637696.1:c.*1048G>T (ABHD14A-ACY1) ENSP00000490554.1:n.*1048G>T
ENST00000637730.1:c.1224G>T (ABHD14A-ACY1)
ENST00000637778.1:c.*1439G>T (ABHD14A-ACY1) ENSP00000490052.1:n.*1439G>T
ENST00000637978.1:c.1260G>T (ABHD14A-ACY1)
ENST00000638096.1:n.582G>T (ACY1)
ENST00000638136.1:n.1107G>T (ACY1)
ENST00000404366.6:c.691G>T (ACY1) ENSP00000384296.2:p.Glu231Ter
ENST00000463721.5:c.*602G>T (ABHD14A-ACY1) ENSP00000417688.1:n.*602G>T
ENST00000463937.1:c.994G>T (ABHD14A-ACY1) ENSP00000420487.1:p.Glu332Ter
ENST00000464587.1:n.377G>T (ACY1)
ENST00000465121.5:n.764G>T (ACY1)
ENST00000476351.5:c.586G>T (ACY1) ENSP00000417056.1:p.Glu196Ter
ENST00000476854.5:c.657+119G>T (ACY1) ENSP00000419262.1:n.657+119G>T
ENST00000491318.5:c.584-129G>T (ACY1) ENSP00000418683.1:n.584-129G>T
ENST00000494103.5:c.475G>T (ACY1) ENSP00000417618.1:p.Glu159Ter
NM_000666.2:c.691G>T (ACY1) NP_000657.1:p.Glu231Ter
NM_001198895.1:c.691G>T (ACY1) NP_001185824.1:p.Glu231Ter
NM_001198896.1:c.475G>T (ACY1) NP_001185825.1:p.Glu159Ter
NM_001198897.1:c.657+119G>T (ACY1) NP_001185826.1:n.657+119G>T
NM_001198898.1:c.586G>T (ACY1) NP_001185827.1:p.Glu196Ter
NM_001316331.1:c.961G>T (ABHD14A-ACY1) NP_001303260.1:p.Glu321Ter
NM_000666.3:c.691G>T (ACY1) MANE Select NP_000657.1:p.Glu231Ter
NM_001198895.2:c.691G>T (ACY1) NP_001185824.1:p.Glu231Ter
NM_001198896.2:c.475G>T (ACY1) NP_001185825.1:p.Glu159Ter
NM_001198897.2:c.657+119G>T (ACY1) NP_001185826.1:n.657+119G>T
NM_001198898.2:c.586G>T (ACY1) NP_001185827.1:p.Glu196Ter
NM_001316331.2:c.961G>T (ABHD14A-ACY1) NP_001303260.1:p.Glu321Ter