Canonical Allele Identifier: CA543055690

Gene: ACY1 ABHD14A-ACY1

Linked Data

• dbSNP Id: rs1425093441
• gnomAD v2: 3-52021225-G-A
• gnomAD v3: 3-51987209-G-A
• gnomAD v4: 3-51987209-G-A
• MyVariant Identifiers: chr3:g.52021225G>A (hg19) ; chr3:g.51987209G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987209G>A , CM000665.2:g.51987209G>A	GRCh38
NC_000003.11:g.52021225G>A , CM000665.1:g.52021225G>A	GRCh37
NC_000003.10:g.51996265G>A	NCBI36
NG_012036.1:g.8663G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.707+13G>A (ACY1)	ENSP00000384296.2:n.707+13G>A
ENST00000464587.2:n.393+13G>A (ACY1)
ENST00000635785.1:c.887+148G>A (ABHD14A-ACY1)
ENST00000635797.1:c.602+13G>A (ACY1)	ENSP00000490007.1:n.602+13G>A
ENST00000635937.1:c.*977G>A (ABHD14A-ACY1)	ENSP00000489887.1:n.*977G>A
ENST00000635941.1:c.994G>A (ACY1)	ENSP00000490309.1:n.994G>A
ENST00000635946.1:c.*1077G>A (ABHD14A-ACY1)	ENSP00000490284.1:n.*1077G>A
ENST00000635951.1:c.*979+13G>A (ABHD14A-ACY1)	ENSP00000490649.1:n.*979+13G>A
ENST00000636089.1:c.*1044+13G>A (ABHD14A-ACY1)	ENSP00000490657.1:n.*1044+13G>A
ENST00000636358.2:c.707+13G>A (ACY1) MANE Select	ENSP00000490149.1:n.707+13G>A
ENST00000636490.1:c.*1044+13G>A (ABHD14A-ACY1)	ENSP00000490575.1:n.*1044+13G>A
ENST00000636556.1:c.*652+13G>A (ACY1)	ENSP00000490500.1:n.*652+13G>A
ENST00000636646.1:c.*944+13G>A (ABHD14A-ACY1)	ENSP00000490688.1:n.*944+13G>A
ENST00000636660.1:c.670+13G>A (ABHD14A-ACY1)
ENST00000636718.1:c.*1319+13G>A (ABHD14A-ACY1)	ENSP00000490429.1:n.*1319+13G>A
ENST00000636826.1:c.*651G>A (ABHD14A-ACY1)	ENSP00000489721.1:n.*651G>A
ENST00000636880.1:c.*417+13G>A (ACY1)	ENSP00000489947.1:n.*417+13G>A
ENST00000636942.1:c.*588+13G>A (ABHD14A-ACY1)	ENSP00000490848.1:n.*588+13G>A
ENST00000637025.1:c.*841G>A (ABHD14A-ACY1)	ENSP00000490236.1:n.*841G>A
ENST00000637034.1:n.140+13G>A (ACY1)
ENST00000637130.1:c.*941G>A (ABHD14A-ACY1)	ENSP00000490887.1:n.*941G>A
ENST00000637199.1:n.180+13G>A (ACY1)
ENST00000637222.1:c.707+13G>A (ABHD14A-ACY1)	ENSP00000490353.1:n.707+13G>A
ENST00000637349.1:c.*220+148G>A (ACY1)	ENSP00000489688.1:n.*220+148G>A
ENST00000637460.1:n.754G>A (ACY1)
ENST00000637512.1:c.957+13G>A (ABHD14A-ACY1)
ENST00000637563.1:c.*1468G>A (ABHD14A-ACY1)	ENSP00000490319.1:n.*1468G>A
ENST00000637696.1:c.*1077G>A (ABHD14A-ACY1)	ENSP00000490554.1:n.*1077G>A
ENST00000637730.1:c.1240+13G>A (ABHD14A-ACY1)
ENST00000637778.1:c.*1468G>A (ABHD14A-ACY1)	ENSP00000490052.1:n.*1468G>A
ENST00000637978.1:c.1276+13G>A (ABHD14A-ACY1)
ENST00000638096.1:n.611G>A (ACY1)
ENST00000638136.1:n.1136G>A (ACY1)
ENST00000404366.6:c.707+13G>A (ACY1)	ENSP00000384296.2:n.707+13G>A
ENST00000463721.5:c.*618+13G>A (ABHD14A-ACY1)	ENSP00000417688.1:n.*618+13G>A
ENST00000463937.1:c.1010+13G>A (ABHD14A-ACY1)	ENSP00000420487.1:n.1010+13G>A
ENST00000464587.1:n.393+13G>A (ACY1)
ENST00000465121.5:n.780+13G>A (ACY1)
ENST00000476351.5:c.602+13G>A (ACY1)	ENSP00000417056.1:n.602+13G>A
ENST00000476854.5:c.657+148G>A (ACY1)	ENSP00000419262.1:n.657+148G>A
ENST00000491318.5:c.584-100G>A (ACY1)	ENSP00000418683.1:n.584-100G>A
ENST00000494103.5:c.491+13G>A (ACY1)	ENSP00000417618.1:n.491+13G>A
NM_000666.2:c.707+13G>A (ACY1)	NP_000657.1:n.707+13G>A
NM_001198895.1:c.707+13G>A (ACY1)	NP_001185824.1:n.707+13G>A
NM_001198896.1:c.491+13G>A (ACY1)	NP_001185825.1:n.491+13G>A
NM_001198897.1:c.657+148G>A (ACY1)	NP_001185826.1:n.657+148G>A
NM_001198898.1:c.602+13G>A (ACY1)	NP_001185827.1:n.602+13G>A
NM_001316331.1:c.977+13G>A (ABHD14A-ACY1)	NP_001303260.1:n.977+13G>A
NM_000666.3:c.707+13G>A (ACY1) MANE Select	NP_000657.1:n.707+13G>A
NM_001198895.2:c.707+13G>A (ACY1)	NP_001185824.1:n.707+13G>A
NM_001198896.2:c.491+13G>A (ACY1)	NP_001185825.1:n.491+13G>A
NM_001198897.2:c.657+148G>A (ACY1)	NP_001185826.1:n.657+148G>A
NM_001198898.2:c.602+13G>A (ACY1)	NP_001185827.1:n.602+13G>A
NM_001316331.2:c.977+13G>A (ABHD14A-ACY1)	NP_001303260.1:n.977+13G>A