Canonical Allele Identifier: CA1047942708

Gene: ACY1 ABHD14A-ACY1

Linked Data

• dbSNP Id: rs1701083661
• gnomAD v3: 3-51986933-T-C
• gnomAD v4: 3-51986933-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51986933T>C , CM000665.2:g.51986933T>C	GRCh38
NC_000003.11:g.52020949T>C , CM000665.1:g.52020949T>C	GRCh37
NC_000003.10:g.51995989T>C	NCBI36
NG_012036.1:g.8387T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.584-55T>C (ACY1)	ENSP00000384296.2:n.584-55T>C
ENST00000464587.2:n.270-55T>C (ACY1)
ENST00000486081.6:c.*430-55T>C (ABHD14A-ACY1)	ENSP00000420395.1:n.*430-55T>C
ENST00000635785.1:c.814-55T>C (ABHD14A-ACY1)
ENST00000635797.1:c.479-55T>C (ACY1)	ENSP00000490007.1:n.479-55T>C
ENST00000635937.1:c.*701T>C (ABHD14A-ACY1)	ENSP00000489887.1:n.*701T>C
ENST00000635941.1:c.718T>C (ACY1)	ENSP00000490309.1:n.718T>C
ENST00000635946.1:c.*801T>C (ABHD14A-ACY1)	ENSP00000490284.1:n.*801T>C
ENST00000635951.1:c.*801T>C (ABHD14A-ACY1)	ENSP00000490649.1:n.*801T>C
ENST00000635952.1:c.671-55T>C (ABHD14A-ACY1)	ENSP00000490434.1:n.671-55T>C
ENST00000636047.1:n.561-12T>C (ACY1)
ENST00000636085.1:c.*430-55T>C (ABHD14A-ACY1)	ENSP00000489981.1:n.*430-55T>C
ENST00000636089.1:c.*866T>C (ABHD14A-ACY1)	ENSP00000490657.1:n.*866T>C
ENST00000636358.2:c.584-55T>C (ACY1) MANE Select	ENSP00000490149.1:n.584-55T>C
ENST00000636490.1:c.*866T>C (ABHD14A-ACY1)	ENSP00000490575.1:n.*866T>C
ENST00000636556.1:c.*529-55T>C (ACY1)	ENSP00000490500.1:n.*529-55T>C
ENST00000636646.1:c.*766T>C (ABHD14A-ACY1)	ENSP00000490688.1:n.*766T>C
ENST00000636660.1:c.462-55T>C (ABHD14A-ACY1)
ENST00000636718.1:c.*1056T>C (ABHD14A-ACY1)	ENSP00000490429.1:n.*1056T>C
ENST00000636826.1:c.*430-55T>C (ABHD14A-ACY1)	ENSP00000489721.1:n.*430-55T>C
ENST00000636880.1:c.*294-55T>C (ACY1)	ENSP00000489947.1:n.*294-55T>C
ENST00000636942.1:c.*430-20T>C (ABHD14A-ACY1)	ENSP00000490848.1:n.*430-20T>C
ENST00000637025.1:c.*565T>C (ABHD14A-ACY1)	ENSP00000490236.1:n.*565T>C
ENST00000637130.1:c.*665T>C (ABHD14A-ACY1)	ENSP00000490887.1:n.*665T>C
ENST00000637199.1:n.2T>C (ACY1)
ENST00000637209.1:c.*294-55T>C (ACY1)	ENSP00000490708.1:n.*294-55T>C
ENST00000637222.1:c.584-55T>C (ABHD14A-ACY1)	ENSP00000490353.1:n.584-55T>C
ENST00000637251.1:n.1602T>C (ACY1)
ENST00000637349.1:c.*147-55T>C (ACY1)	ENSP00000489688.1:n.*147-55T>C
ENST00000637460.1:n.575-12T>C (ACY1)
ENST00000637461.1:c.431-55T>C (ABHD14A-ACY1)
ENST00000637512.1:c.749-55T>C (ABHD14A-ACY1)
ENST00000637563.1:c.*1192T>C (ABHD14A-ACY1)	ENSP00000490319.1:n.*1192T>C
ENST00000637696.1:c.*801T>C (ABHD14A-ACY1)	ENSP00000490554.1:n.*801T>C
ENST00000637730.1:c.1062T>C (ABHD14A-ACY1)
ENST00000637778.1:c.*1192T>C (ABHD14A-ACY1)	ENSP00000490052.1:n.*1192T>C
ENST00000637978.1:c.1153-55T>C (ABHD14A-ACY1)
ENST00000638096.1:n.335T>C (ACY1)
ENST00000638136.1:n.915-55T>C (ACY1)
ENST00000404366.6:c.584-55T>C (ACY1)	ENSP00000384296.2:n.584-55T>C
ENST00000463721.5:c.*495-55T>C (ABHD14A-ACY1)	ENSP00000417688.1:n.*495-55T>C
ENST00000463937.1:c.887-55T>C (ABHD14A-ACY1)	ENSP00000420487.1:n.887-55T>C
ENST00000464587.1:n.270-55T>C (ACY1)
ENST00000465121.5:n.657-55T>C (ACY1)
ENST00000469863.1:c.611-55T>C (ACY1)	ENSP00000419830.1:n.611-55T>C
ENST00000476351.5:c.479-55T>C (ACY1)	ENSP00000417056.1:n.479-55T>C
ENST00000476854.5:c.584-55T>C (ACY1)	ENSP00000419262.1:n.584-55T>C
ENST00000491318.5:c.583+272T>C (ACY1)	ENSP00000418683.1:n.583+272T>C
ENST00000494103.5:c.368-55T>C (ACY1)	ENSP00000417618.1:n.368-55T>C
NM_000666.2:c.584-55T>C (ACY1)	NP_000657.1:n.584-55T>C
NM_001198895.1:c.584-55T>C (ACY1)	NP_001185824.1:n.584-55T>C
NM_001198896.1:c.368-55T>C (ACY1)	NP_001185825.1:n.368-55T>C
NM_001198897.1:c.584-55T>C (ACY1)	NP_001185826.1:n.584-55T>C
NM_001198898.1:c.479-55T>C (ACY1)	NP_001185827.1:n.479-55T>C
NM_001316331.1:c.854-55T>C (ABHD14A-ACY1)	NP_001303260.1:n.854-55T>C
NM_000666.3:c.584-55T>C (ACY1) MANE Select	NP_000657.1:n.584-55T>C
NM_001198895.2:c.584-55T>C (ACY1)	NP_001185824.1:n.584-55T>C
NM_001198896.2:c.368-55T>C (ACY1)	NP_001185825.1:n.368-55T>C
NM_001198897.2:c.584-55T>C (ACY1)	NP_001185826.1:n.584-55T>C
NM_001198898.2:c.479-55T>C (ACY1)	NP_001185827.1:n.479-55T>C
NM_001316331.2:c.854-55T>C (ABHD14A-ACY1)	NP_001303260.1:n.854-55T>C