Canonical Allele Identifier: CA127825

Gene: ACY1 ABHD14A-ACY1

Linked Data

• dbSNP Id: rs387906579
• MyVariant Identifiers: chr3:g.52022968_52022969dupAC (hg19) ; chr3:g.51988952_51988953dupAC (hg38)
• PubMed: PMID:16465618

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51988952_51988953dup , CM000665.2:g.51988952_51988953dup	GRCh38
NC_000003.11:g.52022968_52022969dup , CM000665.1:g.52022968_52022969dup	GRCh37
NC_000003.10:g.51998008_51998009dup	NCBI36
NG_012036.1:g.10406_10407dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000404366.7:c.1104_1105dup (ACY1)	ENSP00000384296.2:p.Pro369HisfsTer?
ENST00000490244.2:n.567_568dup (ACY1)
ENST00000635797.1:c.999_1000dup (ACY1)	ENSP00000490007.1:p.Pro334HisfsTer?
ENST00000635937.1:c.*2372_*2373dup (ABHD14A-ACY1)	ENSP00000489887.1:n.*2372_*2373dup
ENST00000635941.1:c.1490_1491dup (ACY1)	ENSP00000490309.1:n.1490_1491dup
ENST00000635946.1:c.*1675_*1676dup (ABHD14A-ACY1)	ENSP00000490284.1:n.*1675_*1676dup
ENST00000635951.1:c.*1376_*1377dup (ABHD14A-ACY1)	ENSP00000490649.1:n.*1376_*1377dup
ENST00000636089.1:c.*1441_*1442dup (ABHD14A-ACY1)	ENSP00000490657.1:n.*1441_*1442dup
ENST00000636358.2:c.1104_1105dup (ACY1) MANE Select	ENSP00000490149.1:p.Pro369HisfsTer?
ENST00000636490.1:c.*2340_*2341dup (ABHD14A-ACY1)	ENSP00000490575.1:n.*2340_*2341dup
ENST00000636646.1:c.*1341_*1342dup (ABHD14A-ACY1)	ENSP00000490688.1:n.*1341_*1342dup
ENST00000636660.1:c.1067_1068dup (ABHD14A-ACY1)
ENST00000636718.1:c.*1716_*1717dup (ABHD14A-ACY1)	ENSP00000490429.1:n.*1716_*1717dup
ENST00000636826.1:c.*2148_*2149dup (ABHD14A-ACY1)	ENSP00000489721.1:n.*2148_*2149dup
ENST00000636880.1:c.*814_*815dup (ACY1)	ENSP00000489947.1:n.*814_*815dup
ENST00000636942.1:c.*985_*986dup (ABHD14A-ACY1)	ENSP00000490848.1:n.*985_*986dup
ENST00000637025.1:c.*2338_*2339dup (ABHD14A-ACY1)	ENSP00000490236.1:n.*2338_*2339dup
ENST00000637034.1:n.537_538dup (ACY1)
ENST00000637130.1:c.*2336_*2337dup (ABHD14A-ACY1)	ENSP00000490887.1:n.*2336_*2337dup
ENST00000637149.1:c.195_196dup (ACY1)
ENST00000637199.1:n.577_578dup (ACY1)
ENST00000637512.1:c.1354_1355dup (ABHD14A-ACY1)
ENST00000637563.1:c.*1964_*1965dup (ABHD14A-ACY1)	ENSP00000490319.1:n.*1964_*1965dup
ENST00000637696.1:c.*1573_*1574dup (ABHD14A-ACY1)	ENSP00000490554.1:n.*1573_*1574dup
ENST00000637730.1:c.2536_2537dup (ABHD14A-ACY1)
ENST00000637746.1:n.477_478dup (ACY1)
ENST00000637778.1:c.*2863_*2864dup (ABHD14A-ACY1)	ENSP00000490052.1:n.*2863_*2864dup
ENST00000637978.1:c.1673_1674dup (ABHD14A-ACY1)
ENST00000638077.1:n.234_235dup (ACY1)
ENST00000638136.1:n.1632_1633dup (ACY1)
ENST00000404366.6:c.1104_1105dup (ACY1)	ENSP00000384296.2:p.Pro369HisfsTer?
ENST00000463721.5:c.*1015_*1016dup (ABHD14A-ACY1)	ENSP00000417688.1:n.*1015_*1016dup
ENST00000463937.1:c.1407_1408dup (ABHD14A-ACY1)	ENSP00000420487.1:p.Pro470HisfsTer?
ENST00000476351.5:c.999_1000dup (ACY1)	ENSP00000417056.1:p.Pro334HisfsTer?
ENST00000476854.5:c.909_910dup (ACY1)	ENSP00000419262.1:p.Pro304HisfsTer?
ENST00000490244.1:n.567_568dup (ACY1)
ENST00000491318.5:c.*374_*375dup (ACY1)	ENSP00000418683.1:n.*374_*375dup
ENST00000494103.5:c.888_889dup (ACY1)	ENSP00000417618.1:p.Pro297HisfsTer?
NM_000666.2:c.1104_1105dup (ACY1)	NP_000657.1:p.Pro369HisfsTer?
NM_001198895.1:c.1104_1105dup (ACY1)	NP_001185824.1:p.Pro369HisfsTer?
NM_001198896.1:c.888_889dup (ACY1)	NP_001185825.1:p.Pro297HisfsTer?
NM_001198897.1:c.909_910dup (ACY1)	NP_001185826.1:p.Pro304HisfsTer?
NM_001198898.1:c.999_1000dup (ACY1)	NP_001185827.1:p.Pro334HisfsTer?
NM_001316331.1:c.1374_1375dup (ABHD14A-ACY1)	NP_001303260.1:p.Pro459HisfsTer?
NM_000666.3:c.1104_1105dup (ACY1) MANE Select	NP_000657.1:p.Pro369HisfsTer?
NM_001198895.2:c.1104_1105dup (ACY1)	NP_001185824.1:p.Pro369HisfsTer?
NM_001198896.2:c.888_889dup (ACY1)	NP_001185825.1:p.Pro297HisfsTer?
NM_001198897.2:c.909_910dup (ACY1)	NP_001185826.1:p.Pro304HisfsTer?
NM_001198898.2:c.999_1000dup (ACY1)	NP_001185827.1:p.Pro334HisfsTer?
NM_001316331.2:c.1374_1375dup (ABHD14A-ACY1)	NP_001303260.1:p.Pro459HisfsTer?