Canonical Allele Identifier: CA433748854

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021008G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51986992G>C , CM000665.2:g.51986992G>C	GRCh38
NC_000003.11:g.52021008G>C , CM000665.1:g.52021008G>C	GRCh37
NC_000003.10:g.51996048G>C	NCBI36
NG_012036.1:g.8446G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.588G>C (ACY1)	ENSP00000384296.2:p.Val196=
ENST00000464587.2:n.274G>C (ACY1)
ENST00000486081.6:c.*434G>C (ABHD14A-ACY1)	ENSP00000420395.1:n.*434G>C
ENST00000635785.1:c.818G>C (ABHD14A-ACY1)
ENST00000635797.1:c.483G>C (ACY1)	ENSP00000490007.1:p.Val161=
ENST00000635937.1:c.*760G>C (ABHD14A-ACY1)	ENSP00000489887.1:n.*760G>C
ENST00000635941.1:c.777G>C (ACY1)	ENSP00000490309.1:n.777G>C
ENST00000635946.1:c.*860G>C (ABHD14A-ACY1)	ENSP00000490284.1:n.*860G>C
ENST00000635951.1:c.*860G>C (ABHD14A-ACY1)	ENSP00000490649.1:n.*860G>C
ENST00000635952.1:c.675G>C (ABHD14A-ACY1)	ENSP00000490434.1:p.Val225=
ENST00000636085.1:c.*434G>C (ABHD14A-ACY1)	ENSP00000489981.1:n.*434G>C
ENST00000636089.1:c.*925G>C (ABHD14A-ACY1)	ENSP00000490657.1:n.*925G>C
ENST00000636358.2:c.588G>C (ACY1) MANE Select	ENSP00000490149.1:p.Val196=
ENST00000636490.1:c.*925G>C (ABHD14A-ACY1)	ENSP00000490575.1:n.*925G>C
ENST00000636556.1:c.*533G>C (ACY1)	ENSP00000490500.1:n.*533G>C
ENST00000636646.1:c.*825G>C (ABHD14A-ACY1)	ENSP00000490688.1:n.*825G>C
ENST00000636660.1:c.466G>C (ABHD14A-ACY1)
ENST00000636718.1:c.*1115G>C (ABHD14A-ACY1)	ENSP00000490429.1:n.*1115G>C
ENST00000636826.1:c.*434G>C (ABHD14A-ACY1)	ENSP00000489721.1:n.*434G>C
ENST00000636880.1:c.*298G>C (ACY1)	ENSP00000489947.1:n.*298G>C
ENST00000636942.1:c.*469G>C (ABHD14A-ACY1)	ENSP00000490848.1:n.*469G>C
ENST00000637025.1:c.*624G>C (ABHD14A-ACY1)	ENSP00000490236.1:n.*624G>C
ENST00000637130.1:c.*724G>C (ABHD14A-ACY1)	ENSP00000490887.1:n.*724G>C
ENST00000637199.1:n.61G>C (ACY1)
ENST00000637209.1:c.*298G>C (ACY1)	ENSP00000490708.1:n.*298G>C
ENST00000637222.1:c.588G>C (ABHD14A-ACY1)	ENSP00000490353.1:p.Val196=
ENST00000637251.1:n.1661G>C (ACY1)
ENST00000637349.1:c.*151G>C (ACY1)	ENSP00000489688.1:n.*151G>C
ENST00000637460.1:n.622G>C (ACY1)
ENST00000637461.1:c.435G>C (ABHD14A-ACY1)
ENST00000637512.1:c.753G>C (ABHD14A-ACY1)
ENST00000637563.1:c.*1251G>C (ABHD14A-ACY1)	ENSP00000490319.1:n.*1251G>C
ENST00000637696.1:c.*860G>C (ABHD14A-ACY1)	ENSP00000490554.1:n.*860G>C
ENST00000637730.1:c.1121G>C (ABHD14A-ACY1)
ENST00000637778.1:c.*1251G>C (ABHD14A-ACY1)	ENSP00000490052.1:n.*1251G>C
ENST00000637978.1:c.1157G>C (ABHD14A-ACY1)
ENST00000638096.1:n.394G>C (ACY1)
ENST00000638136.1:n.919G>C (ACY1)
ENST00000404366.6:c.588G>C (ACY1)	ENSP00000384296.2:p.Val196=
ENST00000463721.5:c.*499G>C (ABHD14A-ACY1)	ENSP00000417688.1:n.*499G>C
ENST00000463937.1:c.891G>C (ABHD14A-ACY1)	ENSP00000420487.1:p.Val297=
ENST00000464587.1:n.274G>C (ACY1)
ENST00000465121.5:n.661G>C (ACY1)
ENST00000469863.1:c.615G>C (ACY1)	ENSP00000419830.1:p.Val205=
ENST00000476351.5:c.483G>C (ACY1)	ENSP00000417056.1:p.Val161=
ENST00000476854.5:c.588G>C (ACY1)	ENSP00000419262.1:p.Val196=
ENST00000491318.5:c.584-317G>C (ACY1)	ENSP00000418683.1:n.584-317G>C
ENST00000494103.5:c.372G>C (ACY1)	ENSP00000417618.1:p.Val124=
NM_000666.2:c.588G>C (ACY1)	NP_000657.1:p.Val196=
NM_001198895.1:c.588G>C (ACY1)	NP_001185824.1:p.Val196=
NM_001198896.1:c.372G>C (ACY1)	NP_001185825.1:p.Val124=
NM_001198897.1:c.588G>C (ACY1)	NP_001185826.1:p.Val196=
NM_001198898.1:c.483G>C (ACY1)	NP_001185827.1:p.Val161=
NM_001316331.1:c.858G>C (ABHD14A-ACY1)	NP_001303260.1:p.Val286=
NM_000666.3:c.588G>C (ACY1) MANE Select	NP_000657.1:p.Val196=
NM_001198895.2:c.588G>C (ACY1)	NP_001185824.1:p.Val196=
NM_001198896.2:c.372G>C (ACY1)	NP_001185825.1:p.Val124=
NM_001198897.2:c.588G>C (ACY1)	NP_001185826.1:p.Val196=
NM_001198898.2:c.483G>C (ACY1)	NP_001185827.1:p.Val161=
NM_001316331.2:c.858G>C (ABHD14A-ACY1)	NP_001303260.1:p.Val286=