Canonical Allele Identifier: CA353095350

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52023050C>G (hg19) ; chr3:g.51989034C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51989034C>G , CM000665.2:g.51989034C>G	GRCh38
NC_000003.11:g.52023050C>G , CM000665.1:g.52023050C>G	GRCh37
NC_000003.10:g.51998090C>G	NCBI36
NG_012036.1:g.10488C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000404366.7:c.1186C>G (ACY1)	ENSP00000384296.2:p.Pro396Ala
ENST00000490244.2:n.649C>G (ACY1)
ENST00000635797.1:c.1081C>G (ACY1)	ENSP00000490007.1:p.Pro361Ala
ENST00000635937.1:c.*2454C>G (ABHD14A-ACY1)	ENSP00000489887.1:n.*2454C>G
ENST00000635941.1:c.1572C>G (ACY1)	ENSP00000490309.1:n.1572C>G
ENST00000635946.1:c.*1757C>G (ABHD14A-ACY1)	ENSP00000490284.1:n.*1757C>G
ENST00000635951.1:c.*1458C>G (ABHD14A-ACY1)	ENSP00000490649.1:n.*1458C>G
ENST00000636089.1:c.*1523C>G (ABHD14A-ACY1)	ENSP00000490657.1:n.*1523C>G
ENST00000636358.2:c.1186C>G (ACY1) MANE Select	ENSP00000490149.1:p.Pro396Ala
ENST00000636490.1:c.*2422C>G (ABHD14A-ACY1)	ENSP00000490575.1:n.*2422C>G
ENST00000636646.1:c.*1423C>G (ABHD14A-ACY1)	ENSP00000490688.1:n.*1423C>G
ENST00000636718.1:c.*1798C>G (ABHD14A-ACY1)	ENSP00000490429.1:n.*1798C>G
ENST00000636826.1:c.*2230C>G (ABHD14A-ACY1)	ENSP00000489721.1:n.*2230C>G
ENST00000636880.1:c.*896C>G (ACY1)	ENSP00000489947.1:n.*896C>G
ENST00000636942.1:c.*1067C>G (ABHD14A-ACY1)	ENSP00000490848.1:n.*1067C>G
ENST00000637025.1:c.*2420C>G (ABHD14A-ACY1)	ENSP00000490236.1:n.*2420C>G
ENST00000637034.1:n.619C>G (ACY1)
ENST00000637130.1:c.*2418C>G (ABHD14A-ACY1)	ENSP00000490887.1:n.*2418C>G
ENST00000637149.1:c.277C>G (ACY1)
ENST00000637199.1:n.659C>G (ACY1)
ENST00000637512.1:c.1436C>G (ABHD14A-ACY1)
ENST00000637563.1:c.*2046C>G (ABHD14A-ACY1)	ENSP00000490319.1:n.*2046C>G
ENST00000637696.1:c.*1655C>G (ABHD14A-ACY1)	ENSP00000490554.1:n.*1655C>G
ENST00000637730.1:c.2618C>G (ABHD14A-ACY1)
ENST00000637746.1:n.559C>G (ACY1)
ENST00000637778.1:c.*2945C>G (ABHD14A-ACY1)	ENSP00000490052.1:n.*2945C>G
ENST00000637978.1:c.1755C>G (ABHD14A-ACY1)
ENST00000638077.1:n.316C>G (ACY1)
ENST00000638136.1:n.1714C>G (ACY1)
ENST00000404366.6:c.1186C>G (ACY1)	ENSP00000384296.2:p.Pro396Ala
ENST00000463721.5:c.*1097C>G (ABHD14A-ACY1)	ENSP00000417688.1:n.*1097C>G
ENST00000463937.1:c.1489C>G (ABHD14A-ACY1)	ENSP00000420487.1:p.Pro497Ala
ENST00000476351.5:c.1081C>G (ACY1)	ENSP00000417056.1:p.Pro361Ala
ENST00000476854.5:c.991C>G (ACY1)	ENSP00000419262.1:p.Pro331Ala
ENST00000491318.5:c.*456C>G (ACY1)	ENSP00000418683.1:n.*456C>G
ENST00000494103.5:c.970C>G (ACY1)	ENSP00000417618.1:p.Pro324Ala
NM_000666.2:c.1186C>G (ACY1)	NP_000657.1:p.Pro396Ala
NM_001198895.1:c.1186C>G (ACY1)	NP_001185824.1:p.Pro396Ala
NM_001198896.1:c.970C>G (ACY1)	NP_001185825.1:p.Pro324Ala
NM_001198897.1:c.991C>G (ACY1)	NP_001185826.1:p.Pro331Ala
NM_001198898.1:c.1081C>G (ACY1)	NP_001185827.1:p.Pro361Ala
NM_001316331.1:c.1456C>G (ABHD14A-ACY1)	NP_001303260.1:p.Pro486Ala
NM_000666.3:c.1186C>G (ACY1) MANE Select	NP_000657.1:p.Pro396Ala
NM_001198895.2:c.1186C>G (ACY1)	NP_001185824.1:p.Pro396Ala
NM_001198896.2:c.970C>G (ACY1)	NP_001185825.1:p.Pro324Ala
NM_001198897.2:c.991C>G (ACY1)	NP_001185826.1:p.Pro331Ala
NM_001198898.2:c.1081C>G (ACY1)	NP_001185827.1:p.Pro361Ala
NM_001316331.2:c.1456C>G (ABHD14A-ACY1)	NP_001303260.1:p.Pro486Ala