Canonical Allele Identifier: CA353084969
Community Standard Title: NM_000666.3(ACY1):c.19G>C (p.Glu7Gln)
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51984083G>C , CM000665.2:g.51984083G>C GRCh38
NC_000003.11:g.52018099G>C , CM000665.1:g.52018099G>C GRCh37
NC_000003.10:g.51993139G>C NCBI36
NG_012036.1:g.5537G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000666.3:c.19G>C (ACY1) MANE Select NP_000657.1:p.Glu7Gln
ENST00000636358.2:c.19G>C (ACY1) MANE Select ENSP00000490149.1:p.Glu7Gln
NM_000666.2:c.19G>C (ACY1) NP_000657.1:p.Glu7Gln
NM_001198895.1:c.19G>C (ACY1) NP_001185824.1:p.Glu7Gln
NM_001198895.2:c.19G>C (ACY1) NP_001185824.1:p.Glu7Gln
NM_001198896.1:c.19G>C (ACY1) NP_001185825.1:p.Glu7Gln
NM_001198896.2:c.19G>C (ACY1) NP_001185825.1:p.Glu7Gln
NM_001198897.1:c.19G>C (ACY1) NP_001185826.1:p.Glu7Gln
NM_001198897.2:c.19G>C (ACY1) NP_001185826.1:p.Glu7Gln
NM_001198898.1:c.19G>C (ACY1) NP_001185827.1:p.Glu7Gln
NM_001198898.2:c.19G>C (ACY1) NP_001185827.1:p.Glu7Gln
NM_001316331.1:c.289G>C (ABHD14A-ACY1) NP_001303260.1:p.Glu97Gln
NM_001316331.2:c.289G>C (ABHD14A-ACY1) NP_001303260.1:p.Glu97Gln
ENST00000404366.6:c.19G>C (ACY1) ENSP00000384296.2:p.Glu7Gln
ENST00000404366.7:c.19G>C (ACY1) ENSP00000384296.2:p.Glu7Gln
ENST00000463721.5:c.434G>C (ABHD14A-ACY1) ENSP00000417688.1:p.Arg145Pro
ENST00000463937.1:c.398-1124G>C (ABHD14A-ACY1) ENSP00000420487.1:n.398-1124G>C
ENST00000465121.5:n.92G>C (ACY1)
ENST00000469863.1:c.19G>C (ACY1) ENSP00000419830.1:p.Glu7Gln
ENST00000476351.5:c.19G>C (ACY1) ENSP00000417056.1:p.Glu7Gln
ENST00000476854.5:c.19G>C (ACY1) ENSP00000419262.1:p.Glu7Gln
ENST00000486081.5:c.434G>C (ABHD14A-ACY1) ENSP00000420395.1:p.Arg145Pro
ENST00000486081.6:c.434G>C (ABHD14A-ACY1) ENSP00000420395.1:p.Arg145Pro
ENST00000491318.5:c.19G>C (ACY1) ENSP00000418683.1:p.Glu7Gln
ENST00000494103.5:c.19G>C (ACY1) ENSP00000417618.1:p.Glu7Gln
ENST00000496679.1:n.287G>C (ACY1)
ENST00000496679.2:n.287G>C (ACY1)
ENST00000497128.1:n.182G>C (ABHD14A-ACY1)
ENST00000635785.1:c.249G>C (ABHD14A-ACY1)
ENST00000635797.1:c.19G>C (ACY1) ENSP00000490007.1:p.Glu7Gln
ENST00000635937.1:c.434G>C (ABHD14A-ACY1) ENSP00000489887.1:p.Arg145Pro
ENST00000635946.1:c.434G>C (ABHD14A-ACY1) ENSP00000490284.1:p.Arg145Pro
ENST00000635951.1:c.434G>C (ABHD14A-ACY1) ENSP00000490649.1:p.Arg145Pro
ENST00000635952.1:c.106G>C (ABHD14A-ACY1) ENSP00000490434.1:p.Glu36Gln
ENST00000636029.1:n.126G>C (ABHD14A-ACY1)
ENST00000636085.1:c.347G>C (ABHD14A-ACY1) ENSP00000489981.1:p.Arg116Pro
ENST00000636089.1:c.434G>C (ABHD14A-ACY1) ENSP00000490657.1:p.Arg145Pro
ENST00000636264.1:c.142G>C (ABHD14A-ACY1)
ENST00000636490.1:c.434G>C (ABHD14A-ACY1) ENSP00000490575.1:p.Arg145Pro
ENST00000636556.1:c.19G>C (ACY1) ENSP00000490500.1:p.Glu7Gln
ENST00000636646.1:c.434G>C (ABHD14A-ACY1) ENSP00000490688.1:p.Arg145Pro
ENST00000636660.1:c.133-1278G>C (ABHD14A-ACY1)
ENST00000636718.1:c.398-1278G>C (ABHD14A-ACY1) ENSP00000490429.1:n.398-1278G>C
ENST00000636826.1:c.434G>C (ABHD14A-ACY1) ENSP00000489721.1:p.Arg145Pro
ENST00000636880.1:c.19G>C (ACY1) ENSP00000489947.1:p.Glu7Gln
ENST00000636942.1:c.434G>C (ABHD14A-ACY1) ENSP00000490848.1:p.Arg145Pro
ENST00000637025.1:c.106G>C (ABHD14A-ACY1) ENSP00000490236.1:p.Glu36Gln
ENST00000637130.1:c.398-1278G>C (ABHD14A-ACY1) ENSP00000490887.1:n.398-1278G>C
ENST00000637209.1:c.19G>C (ACY1) ENSP00000490708.1:p.Glu7Gln
ENST00000637222.1:c.19G>C (ABHD14A-ACY1) ENSP00000490353.1:p.Glu7Gln
ENST00000637349.1:c.19G>C (ACY1) ENSP00000489688.1:p.Glu7Gln
ENST00000637460.1:n.100G>C (ACY1)
ENST00000637461.1:c.7-1278G>C (ABHD14A-ACY1)
ENST00000637512.1:c.249G>C (ABHD14A-ACY1)
ENST00000637563.1:c.434G>C (ABHD14A-ACY1) ENSP00000490319.1:p.Arg145Pro
ENST00000637696.1:c.434G>C (ABHD14A-ACY1) ENSP00000490554.1:p.Arg145Pro
ENST00000637730.1:c.291G>C (ABHD14A-ACY1)
ENST00000637778.1:c.434G>C (ABHD14A-ACY1) ENSP00000490052.1:p.Arg145Pro
ENST00000637978.1:c.588G>C (ABHD14A-ACY1)