Canonical Allele Identifier: CA2428432
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51985940G>C , CM000665.2:g.51985940G>C GRCh38
NC_000003.11:g.52019956G>C , CM000665.1:g.52019956G>C GRCh37
NC_000003.10:g.51994996G>C NCBI36
NG_012036.1:g.7394G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000404366.7:c.353G>C (ACY1) ENSP00000384296.2:p.Ser118Thr
ENST00000486081.6:c.*199G>C (ABHD14A-ACY1) ENSP00000420395.1:n.*199G>C
ENST00000635785.1:c.583G>C (ABHD14A-ACY1)
ENST00000635797.1:c.248G>C (ACY1) ENSP00000490007.1:p.Ser83Thr
ENST00000635937.1:c.*199G>C (ABHD14A-ACY1) ENSP00000489887.1:n.*199G>C
ENST00000635941.1:c.216G>C (ACY1) ENSP00000490309.1:n.216G>C
ENST00000635946.1:c.*199G>C (ABHD14A-ACY1) ENSP00000490284.1:n.*199G>C
ENST00000635951.1:c.*199G>C (ABHD14A-ACY1) ENSP00000490649.1:n.*199G>C
ENST00000635952.1:c.440G>C (ABHD14A-ACY1) ENSP00000490434.1:p.Ser147Thr
ENST00000636047.1:n.330G>C (ACY1)
ENST00000636085.1:c.*199G>C (ABHD14A-ACY1) ENSP00000489981.1:n.*199G>C
ENST00000636089.1:c.*264G>C (ABHD14A-ACY1) ENSP00000490657.1:n.*264G>C
ENST00000636264.1:c.411G>C (ABHD14A-ACY1)
ENST00000636358.2:c.353G>C (ACY1) MANE Select ENSP00000490149.1:p.Ser118Thr
ENST00000636490.1:c.*264G>C (ABHD14A-ACY1) ENSP00000490575.1:n.*264G>C
ENST00000636556.1:c.*298G>C (ACY1) ENSP00000490500.1:n.*298G>C
ENST00000636646.1:c.*264G>C (ABHD14A-ACY1) ENSP00000490688.1:n.*264G>C
ENST00000636660.1:c.238-315G>C (ABHD14A-ACY1)
ENST00000636718.1:c.*63G>C (ABHD14A-ACY1) ENSP00000490429.1:n.*63G>C
ENST00000636826.1:c.*199G>C (ABHD14A-ACY1) ENSP00000489721.1:n.*199G>C
ENST00000636880.1:c.*63G>C (ACY1) ENSP00000489947.1:n.*63G>C
ENST00000636942.1:c.*199G>C (ABHD14A-ACY1) ENSP00000490848.1:n.*199G>C
ENST00000637025.1:c.*63G>C (ABHD14A-ACY1) ENSP00000490236.1:n.*63G>C
ENST00000637130.1:c.*63G>C (ABHD14A-ACY1) ENSP00000490887.1:n.*63G>C
ENST00000637209.1:c.*63G>C (ACY1) ENSP00000490708.1:n.*63G>C
ENST00000637222.1:c.353G>C (ABHD14A-ACY1) ENSP00000490353.1:p.Ser118Thr
ENST00000637251.1:n.692G>C (ACY1)
ENST00000637349.1:c.265-315G>C (ACY1) ENSP00000489688.1:n.265-315G>C
ENST00000637460.1:n.434G>C (ACY1)
ENST00000637461.1:c.200G>C (ABHD14A-ACY1)
ENST00000637512.1:c.518G>C (ABHD14A-ACY1)
ENST00000637563.1:c.*199G>C (ABHD14A-ACY1) ENSP00000490319.1:n.*199G>C
ENST00000637696.1:c.*199G>C (ABHD14A-ACY1) ENSP00000490554.1:n.*199G>C
ENST00000637730.1:c.560G>C (ABHD14A-ACY1)
ENST00000637778.1:c.*199G>C (ABHD14A-ACY1) ENSP00000490052.1:n.*199G>C
ENST00000637978.1:c.922G>C (ABHD14A-ACY1)
ENST00000638136.1:n.684G>C (ACY1)
ENST00000404366.6:c.353G>C (ACY1) ENSP00000384296.2:p.Ser118Thr
ENST00000463721.5:c.*264G>C (ABHD14A-ACY1) ENSP00000417688.1:n.*264G>C
ENST00000463937.1:c.656G>C (ABHD14A-ACY1) ENSP00000420487.1:p.Ser219Thr
ENST00000465121.5:n.426G>C (ACY1)
ENST00000468068.1:n.621G>C (ACY1)
ENST00000469863.1:c.380G>C (ACY1) ENSP00000419830.1:p.Ser127Thr
ENST00000476351.5:c.248G>C (ACY1) ENSP00000417056.1:p.Ser83Thr
ENST00000476854.5:c.353G>C (ACY1) ENSP00000419262.1:p.Ser118Thr
ENST00000486081.5:c.*199G>C (ABHD14A-ACY1) ENSP00000420395.1:n.*199G>C
ENST00000491318.5:c.353G>C (ACY1) ENSP00000418683.1:p.Ser118Thr
ENST00000494103.5:c.310+43G>C (ACY1) ENSP00000417618.1:n.310+43G>C
ENST00000497128.1:n.363-315G>C (ABHD14A-ACY1)
NM_000666.2:c.353G>C (ACY1) NP_000657.1:p.Ser118Thr
NM_001198895.1:c.353G>C (ACY1) NP_001185824.1:p.Ser118Thr
NM_001198896.1:c.310+43G>C (ACY1) NP_001185825.1:n.310+43G>C
NM_001198897.1:c.353G>C (ACY1) NP_001185826.1:p.Ser118Thr
NM_001198898.1:c.248G>C (ACY1) NP_001185827.1:p.Ser83Thr
NM_001316331.1:c.623G>C (ABHD14A-ACY1) NP_001303260.1:p.Ser208Thr
NM_000666.3:c.353G>C (ACY1) MANE Select NP_000657.1:p.Ser118Thr
NM_001198895.2:c.353G>C (ACY1) NP_001185824.1:p.Ser118Thr
NM_001198896.2:c.310+43G>C (ACY1) NP_001185825.1:n.310+43G>C
NM_001198897.2:c.353G>C (ACY1) NP_001185826.1:p.Ser118Thr
NM_001198898.2:c.248G>C (ACY1) NP_001185827.1:p.Ser83Thr
NM_001316331.2:c.623G>C (ABHD14A-ACY1) NP_001303260.1:p.Ser208Thr