Canonical Allele Identifier: CA353091127

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021210G>C (hg19) ; chr3:g.51987194G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987194G>C , CM000665.2:g.51987194G>C	GRCh38
NC_000003.11:g.52021210G>C , CM000665.1:g.52021210G>C	GRCh37
NC_000003.10:g.51996250G>C	NCBI36
NG_012036.1:g.8648G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.705G>C (ACY1)	ENSP00000384296.2:p.Gln235His
ENST00000464587.2:n.391G>C (ACY1)
ENST00000635785.1:c.887+133G>C (ABHD14A-ACY1)
ENST00000635797.1:c.600G>C (ACY1)	ENSP00000490007.1:p.Gln200His
ENST00000635937.1:c.*962G>C (ABHD14A-ACY1)	ENSP00000489887.1:n.*962G>C
ENST00000635941.1:c.979G>C (ACY1)	ENSP00000490309.1:n.979G>C
ENST00000635946.1:c.*1062G>C (ABHD14A-ACY1)	ENSP00000490284.1:n.*1062G>C
ENST00000635951.1:c.*977G>C (ABHD14A-ACY1)	ENSP00000490649.1:n.*977G>C
ENST00000635952.1:c.792G>C (ABHD14A-ACY1)	ENSP00000490434.1:p.Gln264His
ENST00000636089.1:c.*1042G>C (ABHD14A-ACY1)	ENSP00000490657.1:n.*1042G>C
ENST00000636358.2:c.705G>C (ACY1) MANE Select	ENSP00000490149.1:p.Gln235His
ENST00000636490.1:c.*1042G>C (ABHD14A-ACY1)	ENSP00000490575.1:n.*1042G>C
ENST00000636556.1:c.*650G>C (ACY1)	ENSP00000490500.1:n.*650G>C
ENST00000636646.1:c.*942G>C (ABHD14A-ACY1)	ENSP00000490688.1:n.*942G>C
ENST00000636660.1:c.668G>C (ABHD14A-ACY1)
ENST00000636718.1:c.*1317G>C (ABHD14A-ACY1)	ENSP00000490429.1:n.*1317G>C
ENST00000636826.1:c.*636G>C (ABHD14A-ACY1)	ENSP00000489721.1:n.*636G>C
ENST00000636880.1:c.*415G>C (ACY1)	ENSP00000489947.1:n.*415G>C
ENST00000636942.1:c.*586G>C (ABHD14A-ACY1)	ENSP00000490848.1:n.*586G>C
ENST00000637025.1:c.*826G>C (ABHD14A-ACY1)	ENSP00000490236.1:n.*826G>C
ENST00000637034.1:n.138G>C (ACY1)
ENST00000637130.1:c.*926G>C (ABHD14A-ACY1)	ENSP00000490887.1:n.*926G>C
ENST00000637199.1:n.178G>C (ACY1)
ENST00000637222.1:c.705G>C (ABHD14A-ACY1)	ENSP00000490353.1:p.Gln235His
ENST00000637349.1:c.*220+133G>C (ACY1)	ENSP00000489688.1:n.*220+133G>C
ENST00000637460.1:n.739G>C (ACY1)
ENST00000637512.1:c.955G>C (ABHD14A-ACY1)
ENST00000637563.1:c.*1453G>C (ABHD14A-ACY1)	ENSP00000490319.1:n.*1453G>C
ENST00000637696.1:c.*1062G>C (ABHD14A-ACY1)	ENSP00000490554.1:n.*1062G>C
ENST00000637730.1:c.1238G>C (ABHD14A-ACY1)
ENST00000637778.1:c.*1453G>C (ABHD14A-ACY1)	ENSP00000490052.1:n.*1453G>C
ENST00000637978.1:c.1274G>C (ABHD14A-ACY1)
ENST00000638096.1:n.596G>C (ACY1)
ENST00000638136.1:n.1121G>C (ACY1)
ENST00000404366.6:c.705G>C (ACY1)	ENSP00000384296.2:p.Gln235His
ENST00000463721.5:c.*616G>C (ABHD14A-ACY1)	ENSP00000417688.1:n.*616G>C
ENST00000463937.1:c.1008G>C (ABHD14A-ACY1)	ENSP00000420487.1:p.Gln336His
ENST00000464587.1:n.391G>C (ACY1)
ENST00000465121.5:n.778G>C (ACY1)
ENST00000476351.5:c.600G>C (ACY1)	ENSP00000417056.1:p.Gln200His
ENST00000476854.5:c.657+133G>C (ACY1)	ENSP00000419262.1:n.657+133G>C
ENST00000491318.5:c.584-115G>C (ACY1)	ENSP00000418683.1:n.584-115G>C
ENST00000494103.5:c.489G>C (ACY1)	ENSP00000417618.1:p.Gln163His
NM_000666.2:c.705G>C (ACY1)	NP_000657.1:p.Gln235His
NM_001198895.1:c.705G>C (ACY1)	NP_001185824.1:p.Gln235His
NM_001198896.1:c.489G>C (ACY1)	NP_001185825.1:p.Gln163His
NM_001198897.1:c.657+133G>C (ACY1)	NP_001185826.1:n.657+133G>C
NM_001198898.1:c.600G>C (ACY1)	NP_001185827.1:p.Gln200His
NM_001316331.1:c.975G>C (ABHD14A-ACY1)	NP_001303260.1:p.Gln325His
NM_000666.3:c.705G>C (ACY1) MANE Select	NP_000657.1:p.Gln235His
NM_001198895.2:c.705G>C (ACY1)	NP_001185824.1:p.Gln235His
NM_001198896.2:c.489G>C (ACY1)	NP_001185825.1:p.Gln163His
NM_001198897.2:c.657+133G>C (ACY1)	NP_001185826.1:n.657+133G>C
NM_001198898.2:c.600G>C (ACY1)	NP_001185827.1:p.Gln200His
NM_001316331.2:c.975G>C (ABHD14A-ACY1)	NP_001303260.1:p.Gln325His