Canonical Allele Identifier: CA353090281

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021010G>C (hg19) ; chr3:g.51986994G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51986994G>C , CM000665.2:g.51986994G>C	GRCh38
NC_000003.11:g.52021010G>C , CM000665.1:g.52021010G>C	GRCh37
NC_000003.10:g.51996050G>C	NCBI36
NG_012036.1:g.8448G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.590G>C (ACY1)	ENSP00000384296.2:p.Arg197Pro
ENST00000464587.2:n.276G>C (ACY1)
ENST00000486081.6:c.*436G>C (ABHD14A-ACY1)	ENSP00000420395.1:n.*436G>C
ENST00000635785.1:c.820G>C (ABHD14A-ACY1)
ENST00000635797.1:c.485G>C (ACY1)	ENSP00000490007.1:p.Arg162Pro
ENST00000635937.1:c.*762G>C (ABHD14A-ACY1)	ENSP00000489887.1:n.*762G>C
ENST00000635941.1:c.779G>C (ACY1)	ENSP00000490309.1:n.779G>C
ENST00000635946.1:c.*862G>C (ABHD14A-ACY1)	ENSP00000490284.1:n.*862G>C
ENST00000635951.1:c.*862G>C (ABHD14A-ACY1)	ENSP00000490649.1:n.*862G>C
ENST00000635952.1:c.677G>C (ABHD14A-ACY1)	ENSP00000490434.1:p.Arg226Pro
ENST00000636085.1:c.*436G>C (ABHD14A-ACY1)	ENSP00000489981.1:n.*436G>C
ENST00000636089.1:c.*927G>C (ABHD14A-ACY1)	ENSP00000490657.1:n.*927G>C
ENST00000636358.2:c.590G>C (ACY1) MANE Select	ENSP00000490149.1:p.Arg197Pro
ENST00000636490.1:c.*927G>C (ABHD14A-ACY1)	ENSP00000490575.1:n.*927G>C
ENST00000636556.1:c.*535G>C (ACY1)	ENSP00000490500.1:n.*535G>C
ENST00000636646.1:c.*827G>C (ABHD14A-ACY1)	ENSP00000490688.1:n.*827G>C
ENST00000636660.1:c.468G>C (ABHD14A-ACY1)
ENST00000636718.1:c.*1117G>C (ABHD14A-ACY1)	ENSP00000490429.1:n.*1117G>C
ENST00000636826.1:c.*436G>C (ABHD14A-ACY1)	ENSP00000489721.1:n.*436G>C
ENST00000636880.1:c.*300G>C (ACY1)	ENSP00000489947.1:n.*300G>C
ENST00000636942.1:c.*471G>C (ABHD14A-ACY1)	ENSP00000490848.1:n.*471G>C
ENST00000637025.1:c.*626G>C (ABHD14A-ACY1)	ENSP00000490236.1:n.*626G>C
ENST00000637130.1:c.*726G>C (ABHD14A-ACY1)	ENSP00000490887.1:n.*726G>C
ENST00000637199.1:n.63G>C (ACY1)
ENST00000637209.1:c.*300G>C (ACY1)	ENSP00000490708.1:n.*300G>C
ENST00000637222.1:c.590G>C (ABHD14A-ACY1)	ENSP00000490353.1:p.Arg197Pro
ENST00000637251.1:n.1663G>C (ACY1)
ENST00000637349.1:c.*153G>C (ACY1)	ENSP00000489688.1:n.*153G>C
ENST00000637460.1:n.624G>C (ACY1)
ENST00000637461.1:c.437G>C (ABHD14A-ACY1)
ENST00000637512.1:c.755G>C (ABHD14A-ACY1)
ENST00000637563.1:c.*1253G>C (ABHD14A-ACY1)	ENSP00000490319.1:n.*1253G>C
ENST00000637696.1:c.*862G>C (ABHD14A-ACY1)	ENSP00000490554.1:n.*862G>C
ENST00000637730.1:c.1123G>C (ABHD14A-ACY1)
ENST00000637778.1:c.*1253G>C (ABHD14A-ACY1)	ENSP00000490052.1:n.*1253G>C
ENST00000637978.1:c.1159G>C (ABHD14A-ACY1)
ENST00000638096.1:n.396G>C (ACY1)
ENST00000638136.1:n.921G>C (ACY1)
ENST00000404366.6:c.590G>C (ACY1)	ENSP00000384296.2:p.Arg197Pro
ENST00000463721.5:c.*501G>C (ABHD14A-ACY1)	ENSP00000417688.1:n.*501G>C
ENST00000463937.1:c.893G>C (ABHD14A-ACY1)	ENSP00000420487.1:p.Arg298Pro
ENST00000464587.1:n.276G>C (ACY1)
ENST00000465121.5:n.663G>C (ACY1)
ENST00000469863.1:c.617G>C (ACY1)	ENSP00000419830.1:p.Arg206Pro
ENST00000476351.5:c.485G>C (ACY1)	ENSP00000417056.1:p.Arg162Pro
ENST00000476854.5:c.590G>C (ACY1)	ENSP00000419262.1:p.Arg197Pro
ENST00000491318.5:c.584-315G>C (ACY1)	ENSP00000418683.1:n.584-315G>C
ENST00000494103.5:c.374G>C (ACY1)	ENSP00000417618.1:p.Arg125Pro
NM_000666.2:c.590G>C (ACY1)	NP_000657.1:p.Arg197Pro
NM_001198895.1:c.590G>C (ACY1)	NP_001185824.1:p.Arg197Pro
NM_001198896.1:c.374G>C (ACY1)	NP_001185825.1:p.Arg125Pro
NM_001198897.1:c.590G>C (ACY1)	NP_001185826.1:p.Arg197Pro
NM_001198898.1:c.485G>C (ACY1)	NP_001185827.1:p.Arg162Pro
NM_001316331.1:c.860G>C (ABHD14A-ACY1)	NP_001303260.1:p.Arg287Pro
NM_000666.3:c.590G>C (ACY1) MANE Select	NP_000657.1:p.Arg197Pro
NM_001198895.2:c.590G>C (ACY1)	NP_001185824.1:p.Arg197Pro
NM_001198896.2:c.374G>C (ACY1)	NP_001185825.1:p.Arg125Pro
NM_001198897.2:c.590G>C (ACY1)	NP_001185826.1:p.Arg197Pro
NM_001198898.2:c.485G>C (ACY1)	NP_001185827.1:p.Arg162Pro
NM_001316331.2:c.860G>C (ABHD14A-ACY1)	NP_001303260.1:p.Arg287Pro