Canonical Allele Identifier: CA543055686

Gene: ACY1 ABHD14A-ACY1

Linked Data

• dbSNP Id: rs1403658940
• gnomAD v2: 3-52021114-G-A
• gnomAD v4: 3-51987098-G-A
• MyVariant Identifiers: chr3:g.52021114G>A (hg19) ; chr3:g.51987098G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987098G>A , CM000665.2:g.51987098G>A	GRCh38
NC_000003.11:g.52021114G>A , CM000665.1:g.52021114G>A	GRCh37
NC_000003.10:g.51996154G>A	NCBI36
NG_012036.1:g.8552G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.657+37G>A (ACY1)	ENSP00000384296.2:n.657+37G>A
ENST00000464587.2:n.343+37G>A (ACY1)
ENST00000486081.6:c.*503+37G>A (ABHD14A-ACY1)	ENSP00000420395.1:n.*503+37G>A
ENST00000635785.1:c.887+37G>A (ABHD14A-ACY1)
ENST00000635797.1:c.552+37G>A (ACY1)	ENSP00000490007.1:n.552+37G>A
ENST00000635937.1:c.*866G>A (ABHD14A-ACY1)	ENSP00000489887.1:n.*866G>A
ENST00000635941.1:c.883G>A (ACY1)	ENSP00000490309.1:n.883G>A
ENST00000635946.1:c.*966G>A (ABHD14A-ACY1)	ENSP00000490284.1:n.*966G>A
ENST00000635951.1:c.*929+37G>A (ABHD14A-ACY1)	ENSP00000490649.1:n.*929+37G>A
ENST00000635952.1:c.744+37G>A (ABHD14A-ACY1)	ENSP00000490434.1:n.744+37G>A
ENST00000636085.1:c.*540G>A (ABHD14A-ACY1)	ENSP00000489981.1:n.*540G>A
ENST00000636089.1:c.*994+37G>A (ABHD14A-ACY1)	ENSP00000490657.1:n.*994+37G>A
ENST00000636358.2:c.657+37G>A (ACY1) MANE Select	ENSP00000490149.1:n.657+37G>A
ENST00000636490.1:c.*994+37G>A (ABHD14A-ACY1)	ENSP00000490575.1:n.*994+37G>A
ENST00000636556.1:c.*602+37G>A (ACY1)	ENSP00000490500.1:n.*602+37G>A
ENST00000636646.1:c.*894+37G>A (ABHD14A-ACY1)	ENSP00000490688.1:n.*894+37G>A
ENST00000636660.1:c.572G>A (ABHD14A-ACY1)
ENST00000636718.1:c.*1221G>A (ABHD14A-ACY1)	ENSP00000490429.1:n.*1221G>A
ENST00000636826.1:c.*540G>A (ABHD14A-ACY1)	ENSP00000489721.1:n.*540G>A
ENST00000636880.1:c.*367+37G>A (ACY1)	ENSP00000489947.1:n.*367+37G>A
ENST00000636942.1:c.*538+37G>A (ABHD14A-ACY1)	ENSP00000490848.1:n.*538+37G>A
ENST00000637025.1:c.*730G>A (ABHD14A-ACY1)	ENSP00000490236.1:n.*730G>A
ENST00000637034.1:n.42G>A (ACY1)
ENST00000637130.1:c.*830G>A (ABHD14A-ACY1)	ENSP00000490887.1:n.*830G>A
ENST00000637199.1:n.130+37G>A (ACY1)
ENST00000637209.1:c.*367+37G>A (ACY1)	ENSP00000490708.1:n.*367+37G>A
ENST00000637222.1:c.657+37G>A (ABHD14A-ACY1)	ENSP00000490353.1:n.657+37G>A
ENST00000637349.1:c.*220+37G>A (ACY1)	ENSP00000489688.1:n.*220+37G>A
ENST00000637460.1:n.691+37G>A (ACY1)
ENST00000637461.1:c.541G>A (ABHD14A-ACY1)
ENST00000637512.1:c.859G>A (ABHD14A-ACY1)
ENST00000637563.1:c.*1357G>A (ABHD14A-ACY1)	ENSP00000490319.1:n.*1357G>A
ENST00000637696.1:c.*966G>A (ABHD14A-ACY1)	ENSP00000490554.1:n.*966G>A
ENST00000637730.1:c.1190+37G>A (ABHD14A-ACY1)
ENST00000637778.1:c.*1357G>A (ABHD14A-ACY1)	ENSP00000490052.1:n.*1357G>A
ENST00000637978.1:c.1226+37G>A (ABHD14A-ACY1)
ENST00000638096.1:n.500G>A (ACY1)
ENST00000638136.1:n.1025G>A (ACY1)
ENST00000404366.6:c.657+37G>A (ACY1)	ENSP00000384296.2:n.657+37G>A
ENST00000463721.5:c.*568+37G>A (ABHD14A-ACY1)	ENSP00000417688.1:n.*568+37G>A
ENST00000463937.1:c.960+37G>A (ABHD14A-ACY1)	ENSP00000420487.1:n.960+37G>A
ENST00000464587.1:n.343+37G>A (ACY1)
ENST00000465121.5:n.730+37G>A (ACY1)
ENST00000476351.5:c.552+37G>A (ACY1)	ENSP00000417056.1:n.552+37G>A
ENST00000476854.5:c.657+37G>A (ACY1)	ENSP00000419262.1:n.657+37G>A
ENST00000491318.5:c.584-211G>A (ACY1)	ENSP00000418683.1:n.584-211G>A
ENST00000494103.5:c.441+37G>A (ACY1)	ENSP00000417618.1:n.441+37G>A
NM_000666.2:c.657+37G>A (ACY1)	NP_000657.1:n.657+37G>A
NM_001198895.1:c.657+37G>A (ACY1)	NP_001185824.1:n.657+37G>A
NM_001198896.1:c.441+37G>A (ACY1)	NP_001185825.1:n.441+37G>A
NM_001198897.1:c.657+37G>A (ACY1)	NP_001185826.1:n.657+37G>A
NM_001198898.1:c.552+37G>A (ACY1)	NP_001185827.1:n.552+37G>A
NM_001316331.1:c.927+37G>A (ABHD14A-ACY1)	NP_001303260.1:n.927+37G>A
NM_000666.3:c.657+37G>A (ACY1) MANE Select	NP_000657.1:n.657+37G>A
NM_001198895.2:c.657+37G>A (ACY1)	NP_001185824.1:n.657+37G>A
NM_001198896.2:c.441+37G>A (ACY1)	NP_001185825.1:n.441+37G>A
NM_001198897.2:c.657+37G>A (ACY1)	NP_001185826.1:n.657+37G>A
NM_001198898.2:c.552+37G>A (ACY1)	NP_001185827.1:n.552+37G>A
NM_001316331.2:c.927+37G>A (ABHD14A-ACY1)	NP_001303260.1:n.927+37G>A