Canonical Allele Identifier: CA353090825

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021165C>G (hg19) ; chr3:g.51987149C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987149C>G , CM000665.2:g.51987149C>G	GRCh38
NC_000003.11:g.52021165C>G , CM000665.1:g.52021165C>G	GRCh37
NC_000003.10:g.51996205C>G	NCBI36
NG_012036.1:g.8603C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.660C>G (ACY1)	ENSP00000384296.2:p.His220Gln
ENST00000464587.2:n.346C>G (ACY1)
ENST00000486081.6:c.*506C>G (ABHD14A-ACY1)	ENSP00000420395.1:n.*506C>G
ENST00000635785.1:c.887+88C>G (ABHD14A-ACY1)
ENST00000635797.1:c.555C>G (ACY1)	ENSP00000490007.1:p.His185Gln
ENST00000635937.1:c.*917C>G (ABHD14A-ACY1)	ENSP00000489887.1:n.*917C>G
ENST00000635941.1:c.934C>G (ACY1)	ENSP00000490309.1:n.934C>G
ENST00000635946.1:c.*1017C>G (ABHD14A-ACY1)	ENSP00000490284.1:n.*1017C>G
ENST00000635951.1:c.*932C>G (ABHD14A-ACY1)	ENSP00000490649.1:n.*932C>G
ENST00000635952.1:c.747C>G (ABHD14A-ACY1)	ENSP00000490434.1:p.His249Gln
ENST00000636085.1:c.*591C>G (ABHD14A-ACY1)	ENSP00000489981.1:n.*591C>G
ENST00000636089.1:c.*997C>G (ABHD14A-ACY1)	ENSP00000490657.1:n.*997C>G
ENST00000636358.2:c.660C>G (ACY1) MANE Select	ENSP00000490149.1:p.His220Gln
ENST00000636490.1:c.*997C>G (ABHD14A-ACY1)	ENSP00000490575.1:n.*997C>G
ENST00000636556.1:c.*605C>G (ACY1)	ENSP00000490500.1:n.*605C>G
ENST00000636646.1:c.*897C>G (ABHD14A-ACY1)	ENSP00000490688.1:n.*897C>G
ENST00000636660.1:c.623C>G (ABHD14A-ACY1)
ENST00000636718.1:c.*1272C>G (ABHD14A-ACY1)	ENSP00000490429.1:n.*1272C>G
ENST00000636826.1:c.*591C>G (ABHD14A-ACY1)	ENSP00000489721.1:n.*591C>G
ENST00000636880.1:c.*370C>G (ACY1)	ENSP00000489947.1:n.*370C>G
ENST00000636942.1:c.*541C>G (ABHD14A-ACY1)	ENSP00000490848.1:n.*541C>G
ENST00000637025.1:c.*781C>G (ABHD14A-ACY1)	ENSP00000490236.1:n.*781C>G
ENST00000637034.1:n.93C>G (ACY1)
ENST00000637130.1:c.*881C>G (ABHD14A-ACY1)	ENSP00000490887.1:n.*881C>G
ENST00000637199.1:n.133C>G (ACY1)
ENST00000637209.1:c.*370C>G (ACY1)	ENSP00000490708.1:n.*370C>G
ENST00000637222.1:c.660C>G (ABHD14A-ACY1)	ENSP00000490353.1:p.His220Gln
ENST00000637349.1:c.*220+88C>G (ACY1)	ENSP00000489688.1:n.*220+88C>G
ENST00000637460.1:n.694C>G (ACY1)
ENST00000637512.1:c.910C>G (ABHD14A-ACY1)
ENST00000637563.1:c.*1408C>G (ABHD14A-ACY1)	ENSP00000490319.1:n.*1408C>G
ENST00000637696.1:c.*1017C>G (ABHD14A-ACY1)	ENSP00000490554.1:n.*1017C>G
ENST00000637730.1:c.1193C>G (ABHD14A-ACY1)
ENST00000637778.1:c.*1408C>G (ABHD14A-ACY1)	ENSP00000490052.1:n.*1408C>G
ENST00000637978.1:c.1229C>G (ABHD14A-ACY1)
ENST00000638096.1:n.551C>G (ACY1)
ENST00000638136.1:n.1076C>G (ACY1)
ENST00000404366.6:c.660C>G (ACY1)	ENSP00000384296.2:p.His220Gln
ENST00000463721.5:c.*571C>G (ABHD14A-ACY1)	ENSP00000417688.1:n.*571C>G
ENST00000463937.1:c.963C>G (ABHD14A-ACY1)	ENSP00000420487.1:p.His321Gln
ENST00000464587.1:n.346C>G (ACY1)
ENST00000465121.5:n.733C>G (ACY1)
ENST00000476351.5:c.555C>G (ACY1)	ENSP00000417056.1:p.His185Gln
ENST00000476854.5:c.657+88C>G (ACY1)	ENSP00000419262.1:n.657+88C>G
ENST00000491318.5:c.584-160C>G (ACY1)	ENSP00000418683.1:n.584-160C>G
ENST00000494103.5:c.444C>G (ACY1)	ENSP00000417618.1:p.His148Gln
NM_000666.2:c.660C>G (ACY1)	NP_000657.1:p.His220Gln
NM_001198895.1:c.660C>G (ACY1)	NP_001185824.1:p.His220Gln
NM_001198896.1:c.444C>G (ACY1)	NP_001185825.1:p.His148Gln
NM_001198897.1:c.657+88C>G (ACY1)	NP_001185826.1:n.657+88C>G
NM_001198898.1:c.555C>G (ACY1)	NP_001185827.1:p.His185Gln
NM_001316331.1:c.930C>G (ABHD14A-ACY1)	NP_001303260.1:p.His310Gln
NM_000666.3:c.660C>G (ACY1) MANE Select	NP_000657.1:p.His220Gln
NM_001198895.2:c.660C>G (ACY1)	NP_001185824.1:p.His220Gln
NM_001198896.2:c.444C>G (ACY1)	NP_001185825.1:p.His148Gln
NM_001198897.2:c.657+88C>G (ACY1)	NP_001185826.1:n.657+88C>G
NM_001198898.2:c.555C>G (ACY1)	NP_001185827.1:p.His185Gln
NM_001316331.2:c.930C>G (ABHD14A-ACY1)	NP_001303260.1:p.His310Gln