Canonical Allele Identifier: CA2601584

Gene: ACAD9

Linked Data

• ClinVar Variation Id: 759592
• ClinVar RCV Id: RCV000937434 ; RCV001275326
• dbSNP Id: rs751618594
• ExAC: 3:128628252 C / T
• gnomAD v2: 3-128628252-C-T
• gnomAD v3: 3-128909409-C-T
• gnomAD v4: 3-128909409-C-T
• MyVariant Identifiers: chr3:g.128628252C>T (hg19) ; chr3:g.128909409C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128909409C>T , CM000665.2:g.128909409C>T	GRCh38
NC_000003.11:g.128628252C>T , CM000665.1:g.128628252C>T	GRCh37
NC_000003.10:g.130110942C>T	NCBI36
NG_017064.1:g.34920C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1551C>T MANE Select	ENSP00000312618.7:p.Leu517=
ENST00000511325.2:n.1629C>T
ENST00000679399.1:c.*1722C>T	ENSP00000505434.1:n.*1722C>T
ENST00000679431.1:c.*1427C>T	ENSP00000506440.1:n.*1427C>T
ENST00000679613.1:c.1551C>T	ENSP00000504971.1:p.Leu517=
ENST00000679715.1:c.1182C>T	ENSP00000506228.1:p.Leu394=
ENST00000679824.1:c.*2857C>T	ENSP00000505516.1:n.*2857C>T
ENST00000679990.1:n.1786C>T
ENST00000680636.1:c.1551C>T	ENSP00000504886.1:p.Leu517=
ENST00000680638.1:n.1304C>T
ENST00000680744.1:c.*904C>T	ENSP00000505243.1:n.*904C>T
ENST00000680764.1:c.*2955C>T	ENSP00000505126.1:n.*2955C>T
ENST00000681319.1:n.2337C>T
ENST00000681367.1:c.1551C>T	ENSP00000505309.1:p.Leu517=
ENST00000681552.1:c.1150-3098C>T	ENSP00000505699.1:n.1150-3098C>T
ENST00000681583.1:c.1551C>T	ENSP00000506340.1:p.Leu517=
ENST00000681585.1:c.*170C>T	ENSP00000506316.1:n.*170C>T
ENST00000681784.1:n.1629C>T
ENST00000681886.1:c.*744C>T	ENSP00000506500.1:n.*744C>T
ENST00000308982.11:c.1551C>T	ENSP00000312618.7:p.Leu517=
ENST00000505867.5:c.*1351C>T	ENSP00000425346.1:n.*1351C>T
ENST00000508971.1:c.840C>T	ENSP00000422683.1:p.Leu280=
ENST00000511227.5:c.*1445C>T	ENSP00000425226.1:n.*1445C>T
ENST00000511325.1:n.532C>T
ENST00000511526.5:n.1084C>T
NM_014049.4:c.1551C>T	NP_054768.2:p.Leu517=
NR_033426.1:n.1929C>T
XM_011512742.1:c.1182C>T	XP_011511044.1:p.Leu394=
XM_024453484.1:c.1182C>T	XP_024309252.1:p.Leu394=
XM_024453485.1:c.1182C>T	XP_024309253.1:p.Leu394=
XR_427367.3:n.1627C>T
NM_014049.5:c.1551C>T MANE Select	NP_054768.2:p.Leu517=
NR_033426.2:n.1799C>T