Canonical Allele Identifier: CA353090819

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021164A>T (hg19) ; chr3:g.51987148A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987148A>T , CM000665.2:g.51987148A>T	GRCh38
NC_000003.11:g.52021164A>T , CM000665.1:g.52021164A>T	GRCh37
NC_000003.10:g.51996204A>T	NCBI36
NG_012036.1:g.8602A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.659A>T (ACY1)	ENSP00000384296.2:p.His220Leu
ENST00000464587.2:n.345A>T (ACY1)
ENST00000486081.6:c.*505A>T (ABHD14A-ACY1)	ENSP00000420395.1:n.*505A>T
ENST00000635785.1:c.887+87A>T (ABHD14A-ACY1)
ENST00000635797.1:c.554A>T (ACY1)	ENSP00000490007.1:p.His185Leu
ENST00000635937.1:c.*916A>T (ABHD14A-ACY1)	ENSP00000489887.1:n.*916A>T
ENST00000635941.1:c.933A>T (ACY1)	ENSP00000490309.1:n.933A>T
ENST00000635946.1:c.*1016A>T (ABHD14A-ACY1)	ENSP00000490284.1:n.*1016A>T
ENST00000635951.1:c.*931A>T (ABHD14A-ACY1)	ENSP00000490649.1:n.*931A>T
ENST00000635952.1:c.746A>T (ABHD14A-ACY1)	ENSP00000490434.1:p.His249Leu
ENST00000636085.1:c.*590A>T (ABHD14A-ACY1)	ENSP00000489981.1:n.*590A>T
ENST00000636089.1:c.*996A>T (ABHD14A-ACY1)	ENSP00000490657.1:n.*996A>T
ENST00000636358.2:c.659A>T (ACY1) MANE Select	ENSP00000490149.1:p.His220Leu
ENST00000636490.1:c.*996A>T (ABHD14A-ACY1)	ENSP00000490575.1:n.*996A>T
ENST00000636556.1:c.*604A>T (ACY1)	ENSP00000490500.1:n.*604A>T
ENST00000636646.1:c.*896A>T (ABHD14A-ACY1)	ENSP00000490688.1:n.*896A>T
ENST00000636660.1:c.622A>T (ABHD14A-ACY1)
ENST00000636718.1:c.*1271A>T (ABHD14A-ACY1)	ENSP00000490429.1:n.*1271A>T
ENST00000636826.1:c.*590A>T (ABHD14A-ACY1)	ENSP00000489721.1:n.*590A>T
ENST00000636880.1:c.*369A>T (ACY1)	ENSP00000489947.1:n.*369A>T
ENST00000636942.1:c.*540A>T (ABHD14A-ACY1)	ENSP00000490848.1:n.*540A>T
ENST00000637025.1:c.*780A>T (ABHD14A-ACY1)	ENSP00000490236.1:n.*780A>T
ENST00000637034.1:n.92A>T (ACY1)
ENST00000637130.1:c.*880A>T (ABHD14A-ACY1)	ENSP00000490887.1:n.*880A>T
ENST00000637199.1:n.132A>T (ACY1)
ENST00000637209.1:c.*369A>T (ACY1)	ENSP00000490708.1:n.*369A>T
ENST00000637222.1:c.659A>T (ABHD14A-ACY1)	ENSP00000490353.1:p.His220Leu
ENST00000637349.1:c.*220+87A>T (ACY1)	ENSP00000489688.1:n.*220+87A>T
ENST00000637460.1:n.693A>T (ACY1)
ENST00000637512.1:c.909A>T (ABHD14A-ACY1)
ENST00000637563.1:c.*1407A>T (ABHD14A-ACY1)	ENSP00000490319.1:n.*1407A>T
ENST00000637696.1:c.*1016A>T (ABHD14A-ACY1)	ENSP00000490554.1:n.*1016A>T
ENST00000637730.1:c.1192A>T (ABHD14A-ACY1)
ENST00000637778.1:c.*1407A>T (ABHD14A-ACY1)	ENSP00000490052.1:n.*1407A>T
ENST00000637978.1:c.1228A>T (ABHD14A-ACY1)
ENST00000638096.1:n.550A>T (ACY1)
ENST00000638136.1:n.1075A>T (ACY1)
ENST00000404366.6:c.659A>T (ACY1)	ENSP00000384296.2:p.His220Leu
ENST00000463721.5:c.*570A>T (ABHD14A-ACY1)	ENSP00000417688.1:n.*570A>T
ENST00000463937.1:c.962A>T (ABHD14A-ACY1)	ENSP00000420487.1:p.His321Leu
ENST00000464587.1:n.345A>T (ACY1)
ENST00000465121.5:n.732A>T (ACY1)
ENST00000476351.5:c.554A>T (ACY1)	ENSP00000417056.1:p.His185Leu
ENST00000476854.5:c.657+87A>T (ACY1)	ENSP00000419262.1:n.657+87A>T
ENST00000491318.5:c.584-161A>T (ACY1)	ENSP00000418683.1:n.584-161A>T
ENST00000494103.5:c.443A>T (ACY1)	ENSP00000417618.1:p.His148Leu
NM_000666.2:c.659A>T (ACY1)	NP_000657.1:p.His220Leu
NM_001198895.1:c.659A>T (ACY1)	NP_001185824.1:p.His220Leu
NM_001198896.1:c.443A>T (ACY1)	NP_001185825.1:p.His148Leu
NM_001198897.1:c.657+87A>T (ACY1)	NP_001185826.1:n.657+87A>T
NM_001198898.1:c.554A>T (ACY1)	NP_001185827.1:p.His185Leu
NM_001316331.1:c.929A>T (ABHD14A-ACY1)	NP_001303260.1:p.His310Leu
NM_000666.3:c.659A>T (ACY1) MANE Select	NP_000657.1:p.His220Leu
NM_001198895.2:c.659A>T (ACY1)	NP_001185824.1:p.His220Leu
NM_001198896.2:c.443A>T (ACY1)	NP_001185825.1:p.His148Leu
NM_001198897.2:c.657+87A>T (ACY1)	NP_001185826.1:n.657+87A>T
NM_001198898.2:c.554A>T (ACY1)	NP_001185827.1:p.His185Leu
NM_001316331.2:c.929A>T (ABHD14A-ACY1)	NP_001303260.1:p.His310Leu