Canonical Allele Identifier: CA2601578

Gene: ACAD9

Linked Data

• dbSNP Id: rs776646967
• ExAC: 3:128628229 C / T
• gnomAD v2: 3-128628229-C-T
• gnomAD v3: 3-128909386-C-T
• gnomAD v4: 3-128909386-C-T
• COSMIC: COSM5720135
• MyVariant Identifiers: chr3:g.128628229C>T (hg19) ; chr3:g.128909386C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128909386C>T , CM000665.2:g.128909386C>T	GRCh38
NC_000003.11:g.128628229C>T , CM000665.1:g.128628229C>T	GRCh37
NC_000003.10:g.130110919C>T	NCBI36
NG_017064.1:g.34897C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308982.12:c.1528C>T MANE Select	ENSP00000312618.7:p.Arg510Trp
ENST00000511325.2:n.1606C>T
ENST00000679399.1:c.*1699C>T	ENSP00000505434.1:n.*1699C>T
ENST00000679431.1:c.*1404C>T	ENSP00000506440.1:n.*1404C>T
ENST00000679613.1:c.1528C>T	ENSP00000504971.1:p.Arg510Trp
ENST00000679715.1:c.1159C>T	ENSP00000506228.1:p.Arg387Trp
ENST00000679824.1:c.*2834C>T	ENSP00000505516.1:n.*2834C>T
ENST00000679990.1:n.1763C>T
ENST00000680636.1:c.1528C>T	ENSP00000504886.1:p.Arg510Trp
ENST00000680638.1:n.1281C>T
ENST00000680744.1:c.*881C>T	ENSP00000505243.1:n.*881C>T
ENST00000680764.1:c.*2932C>T	ENSP00000505126.1:n.*2932C>T
ENST00000681319.1:n.2314C>T
ENST00000681367.1:c.1528C>T	ENSP00000505309.1:p.Arg510Trp
ENST00000681552.1:c.1150-3121C>T	ENSP00000505699.1:n.1150-3121C>T
ENST00000681583.1:c.1528C>T	ENSP00000506340.1:p.Arg510Trp
ENST00000681585.1:c.*147C>T	ENSP00000506316.1:n.*147C>T
ENST00000681784.1:n.1606C>T
ENST00000681886.1:c.*721C>T	ENSP00000506500.1:n.*721C>T
ENST00000308982.11:c.1528C>T	ENSP00000312618.7:p.Arg510Trp
ENST00000505867.5:c.*1328C>T	ENSP00000425346.1:n.*1328C>T
ENST00000508971.1:c.817C>T	ENSP00000422683.1:p.Arg273Trp
ENST00000511227.5:c.*1422C>T	ENSP00000425226.1:n.*1422C>T
ENST00000511325.1:n.509C>T
ENST00000511526.5:n.1061C>T
NM_014049.4:c.1528C>T	NP_054768.2:p.Arg510Trp
NR_033426.1:n.1906C>T
XM_011512742.1:c.1159C>T	XP_011511044.1:p.Arg387Trp
XM_024453484.1:c.1159C>T	XP_024309252.1:p.Arg387Trp
XM_024453485.1:c.1159C>T	XP_024309253.1:p.Arg387Trp
XR_427367.3:n.1604C>T
NM_014049.5:c.1528C>T MANE Select	NP_054768.2:p.Arg510Trp
NR_033426.2:n.1776C>T