Canonical Allele Identifier: CA435595081

Gene: ACAD9

Linked Data

• ClinVar Variation Id: 2739140
• ClinVar RCV Id: RCV003555398
• MyVariant Identifiers: chr3:g.128628246G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128909403G>T , CM000665.2:g.128909403G>T	GRCh38
NC_000003.11:g.128628246G>T , CM000665.1:g.128628246G>T	GRCh37
NC_000003.10:g.130110936G>T	NCBI36
NG_017064.1:g.34914G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1545G>T MANE Select	ENSP00000312618.7:p.Leu515=
ENST00000511325.2:n.1623G>T
ENST00000679399.1:c.*1716G>T	ENSP00000505434.1:n.*1716G>T
ENST00000679431.1:c.*1421G>T	ENSP00000506440.1:n.*1421G>T
ENST00000679613.1:c.1545G>T	ENSP00000504971.1:p.Leu515=
ENST00000679715.1:c.1176G>T	ENSP00000506228.1:p.Leu392=
ENST00000679824.1:c.*2851G>T	ENSP00000505516.1:n.*2851G>T
ENST00000679990.1:n.1780G>T
ENST00000680636.1:c.1545G>T	ENSP00000504886.1:p.Leu515=
ENST00000680638.1:n.1298G>T
ENST00000680744.1:c.*898G>T	ENSP00000505243.1:n.*898G>T
ENST00000680764.1:c.*2949G>T	ENSP00000505126.1:n.*2949G>T
ENST00000681319.1:n.2331G>T
ENST00000681367.1:c.1545G>T	ENSP00000505309.1:p.Leu515=
ENST00000681552.1:c.1150-3104G>T	ENSP00000505699.1:n.1150-3104G>T
ENST00000681583.1:c.1545G>T	ENSP00000506340.1:p.Leu515=
ENST00000681585.1:c.*164G>T	ENSP00000506316.1:n.*164G>T
ENST00000681784.1:n.1623G>T
ENST00000681886.1:c.*738G>T	ENSP00000506500.1:n.*738G>T
ENST00000308982.11:c.1545G>T	ENSP00000312618.7:p.Leu515=
ENST00000505867.5:c.*1345G>T	ENSP00000425346.1:n.*1345G>T
ENST00000508971.1:c.834G>T	ENSP00000422683.1:p.Leu278=
ENST00000511227.5:c.*1439G>T	ENSP00000425226.1:n.*1439G>T
ENST00000511325.1:n.526G>T
ENST00000511526.5:n.1078G>T
NM_014049.4:c.1545G>T	NP_054768.2:p.Leu515=
NR_033426.1:n.1923G>T
XM_011512742.1:c.1176G>T	XP_011511044.1:p.Leu392=
XM_024453484.1:c.1176G>T	XP_024309252.1:p.Leu392=
XM_024453485.1:c.1176G>T	XP_024309253.1:p.Leu392=
XR_427367.3:n.1621G>T
NM_014049.5:c.1545G>T MANE Select	NP_054768.2:p.Leu515=
NR_033426.2:n.1793G>T