Canonical Allele Identifier: CA353090338

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021022C>G (hg19) ; chr3:g.51987006C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987006C>G , CM000665.2:g.51987006C>G	GRCh38
NC_000003.11:g.52021022C>G , CM000665.1:g.52021022C>G	GRCh37
NC_000003.10:g.51996062C>G	NCBI36
NG_012036.1:g.8460C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.602C>G (ACY1)	ENSP00000384296.2:p.Thr201Ser
ENST00000464587.2:n.288C>G (ACY1)
ENST00000486081.6:c.*448C>G (ABHD14A-ACY1)	ENSP00000420395.1:n.*448C>G
ENST00000635785.1:c.832C>G (ABHD14A-ACY1)
ENST00000635797.1:c.497C>G (ACY1)	ENSP00000490007.1:p.Thr166Ser
ENST00000635937.1:c.*774C>G (ABHD14A-ACY1)	ENSP00000489887.1:n.*774C>G
ENST00000635941.1:c.791C>G (ACY1)	ENSP00000490309.1:n.791C>G
ENST00000635946.1:c.*874C>G (ABHD14A-ACY1)	ENSP00000490284.1:n.*874C>G
ENST00000635951.1:c.*874C>G (ABHD14A-ACY1)	ENSP00000490649.1:n.*874C>G
ENST00000635952.1:c.689C>G (ABHD14A-ACY1)	ENSP00000490434.1:p.Thr230Ser
ENST00000636085.1:c.*448C>G (ABHD14A-ACY1)	ENSP00000489981.1:n.*448C>G
ENST00000636089.1:c.*939C>G (ABHD14A-ACY1)	ENSP00000490657.1:n.*939C>G
ENST00000636358.2:c.602C>G (ACY1) MANE Select	ENSP00000490149.1:p.Thr201Ser
ENST00000636490.1:c.*939C>G (ABHD14A-ACY1)	ENSP00000490575.1:n.*939C>G
ENST00000636556.1:c.*547C>G (ACY1)	ENSP00000490500.1:n.*547C>G
ENST00000636646.1:c.*839C>G (ABHD14A-ACY1)	ENSP00000490688.1:n.*839C>G
ENST00000636660.1:c.480C>G (ABHD14A-ACY1)
ENST00000636718.1:c.*1129C>G (ABHD14A-ACY1)	ENSP00000490429.1:n.*1129C>G
ENST00000636826.1:c.*448C>G (ABHD14A-ACY1)	ENSP00000489721.1:n.*448C>G
ENST00000636880.1:c.*312C>G (ACY1)	ENSP00000489947.1:n.*312C>G
ENST00000636942.1:c.*483C>G (ABHD14A-ACY1)	ENSP00000490848.1:n.*483C>G
ENST00000637025.1:c.*638C>G (ABHD14A-ACY1)	ENSP00000490236.1:n.*638C>G
ENST00000637130.1:c.*738C>G (ABHD14A-ACY1)	ENSP00000490887.1:n.*738C>G
ENST00000637199.1:n.75C>G (ACY1)
ENST00000637209.1:c.*312C>G (ACY1)	ENSP00000490708.1:n.*312C>G
ENST00000637222.1:c.602C>G (ABHD14A-ACY1)	ENSP00000490353.1:p.Thr201Ser
ENST00000637251.1:n.1675C>G (ACY1)
ENST00000637349.1:c.*165C>G (ACY1)	ENSP00000489688.1:n.*165C>G
ENST00000637460.1:n.636C>G (ACY1)
ENST00000637461.1:c.449C>G (ABHD14A-ACY1)
ENST00000637512.1:c.767C>G (ABHD14A-ACY1)
ENST00000637563.1:c.*1265C>G (ABHD14A-ACY1)	ENSP00000490319.1:n.*1265C>G
ENST00000637696.1:c.*874C>G (ABHD14A-ACY1)	ENSP00000490554.1:n.*874C>G
ENST00000637730.1:c.1135C>G (ABHD14A-ACY1)
ENST00000637778.1:c.*1265C>G (ABHD14A-ACY1)	ENSP00000490052.1:n.*1265C>G
ENST00000637978.1:c.1171C>G (ABHD14A-ACY1)
ENST00000638096.1:n.408C>G (ACY1)
ENST00000638136.1:n.933C>G (ACY1)
ENST00000404366.6:c.602C>G (ACY1)	ENSP00000384296.2:p.Thr201Ser
ENST00000463721.5:c.*513C>G (ABHD14A-ACY1)	ENSP00000417688.1:n.*513C>G
ENST00000463937.1:c.905C>G (ABHD14A-ACY1)	ENSP00000420487.1:p.Thr302Ser
ENST00000464587.1:n.288C>G (ACY1)
ENST00000465121.5:n.675C>G (ACY1)
ENST00000469863.1:c.629C>G (ACY1)	ENSP00000419830.1:p.Thr210Ser
ENST00000476351.5:c.497C>G (ACY1)	ENSP00000417056.1:p.Thr166Ser
ENST00000476854.5:c.602C>G (ACY1)	ENSP00000419262.1:p.Thr201Ser
ENST00000491318.5:c.584-303C>G (ACY1)	ENSP00000418683.1:n.584-303C>G
ENST00000494103.5:c.386C>G (ACY1)	ENSP00000417618.1:p.Thr129Ser
NM_000666.2:c.602C>G (ACY1)	NP_000657.1:p.Thr201Ser
NM_001198895.1:c.602C>G (ACY1)	NP_001185824.1:p.Thr201Ser
NM_001198896.1:c.386C>G (ACY1)	NP_001185825.1:p.Thr129Ser
NM_001198897.1:c.602C>G (ACY1)	NP_001185826.1:p.Thr201Ser
NM_001198898.1:c.497C>G (ACY1)	NP_001185827.1:p.Thr166Ser
NM_001316331.1:c.872C>G (ABHD14A-ACY1)	NP_001303260.1:p.Thr291Ser
NM_000666.3:c.602C>G (ACY1) MANE Select	NP_000657.1:p.Thr201Ser
NM_001198895.2:c.602C>G (ACY1)	NP_001185824.1:p.Thr201Ser
NM_001198896.2:c.386C>G (ACY1)	NP_001185825.1:p.Thr129Ser
NM_001198897.2:c.602C>G (ACY1)	NP_001185826.1:p.Thr201Ser
NM_001198898.2:c.497C>G (ACY1)	NP_001185827.1:p.Thr166Ser
NM_001316331.2:c.872C>G (ABHD14A-ACY1)	NP_001303260.1:p.Thr291Ser