Canonical Allele Identifier: CA497694065

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7126965C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223646C>T , CM000679.2:g.7223646C>T	GRCh38
NC_000017.10:g.7126965C>T , CM000679.1:g.7126965C>T	GRCh37
NC_000017.9:g.7067689C>T	NCBI36
NG_007975.1:g.8813C>T
NG_008391.2:g.1405G>A
NG_033038.1:g.15899G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1185C>T MANE Select	ENSP00000349297.5:p.Ser395=
ENST00000322910.9:c.*1140C>T	ENSP00000325395.5:n.*1140C>T
ENST00000350303.9:c.1119C>T	ENSP00000344152.5:p.Ser373=
ENST00000356839.9:c.1185C>T	ENSP00000349297.5:p.Ser395=
ENST00000542255.6:c.43C>T
ENST00000543245.6:c.1254C>T	ENSP00000438689.2:p.Ser418=
ENST00000578579.2:n.356C>T
ENST00000578711.1:n.142C>T
ENST00000578824.5:n.601C>T
ENST00000579425.5:n.209C>T
ENST00000579546.1:c.22C>T
ENST00000583858.5:c.214C>T
ENST00000585203.6:n.393C>T
NM_000018.3:c.1185C>T	NP_000009.1:p.Ser395=
NM_001033859.2:c.1119C>T	NP_001029031.1:p.Ser373=
NM_001270447.1:c.1254C>T	NP_001257376.1:p.Ser418=
NM_001270448.1:c.957C>T	NP_001257377.1:p.Ser319=
XM_006721516.2:c.1185C>T	XP_006721579.2:p.Ser395=
XM_011523829.1:c.1185C>T	XP_011522131.1:p.Ser395=
XM_011523830.1:c.1185C>T	XP_011522132.1:p.Ser395=
XR_934021.1:n.1292C>T
XR_934022.1:n.1292C>T
XR_934023.1:n.1292C>T
XM_006721516.3:c.1185C>T	XP_006721579.2:p.Ser395=
XM_011523829.2:c.1185C>T	XP_011522131.1:p.Ser395=
XM_011523830.2:c.1185C>T	XP_011522132.1:p.Ser395=
XM_024450741.1:c.1185C>T	XP_024306509.1:p.Ser395=
XR_934021.2:n.1244C>T
XR_934022.2:n.1244C>T
XR_934023.2:n.1244C>T
NM_000018.4:c.1185C>T MANE Select	NP_000009.1:p.Ser395=
NM_001033859.3:c.1119C>T	NP_001029031.1:p.Ser373=
NM_001270447.2:c.1254C>T	NP_001257376.1:p.Ser418=
NM_001270448.2:c.957C>T	NP_001257377.1:p.Ser319=