Canonical Allele Identifier: CA497694005

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125308A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221989A>T , CM000679.2:g.7221989A>T	GRCh38
NC_000017.10:g.7125308A>T , CM000679.1:g.7125308A>T	GRCh37
NC_000017.9:g.7066032A>T	NCBI36
NG_007975.1:g.7156A>T
NG_008391.2:g.3062T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.660A>T MANE Select	ENSP00000349297.5:p.Ser220=
ENST00000322910.9:c.*615A>T	ENSP00000325395.5:n.*615A>T
ENST00000350303.9:c.594A>T	ENSP00000344152.5:p.Ser198=
ENST00000356839.9:c.660A>T	ENSP00000349297.5:p.Ser220=
ENST00000543245.6:c.729A>T	ENSP00000438689.2:p.Ser243=
ENST00000577191.5:n.737A>T
ENST00000577857.5:n.476A>T
ENST00000579286.5:n.841A>T
ENST00000580365.1:n.391A>T
ENST00000581378.5:c.378A>T
ENST00000581562.5:n.562A>T
ENST00000582379.1:n.44A>T
ENST00000583760.1:n.442A>T
NM_000018.3:c.660A>T	NP_000009.1:p.Ser220=
NM_001033859.2:c.594A>T	NP_001029031.1:p.Ser198=
NM_001270447.1:c.729A>T	NP_001257376.1:p.Ser243=
NM_001270448.1:c.432A>T	NP_001257377.1:p.Ser144=
XM_006721516.2:c.660A>T	XP_006721579.2:p.Ser220=
XM_011523829.1:c.660A>T	XP_011522131.1:p.Ser220=
XM_011523830.1:c.660A>T	XP_011522132.1:p.Ser220=
XR_934021.1:n.767A>T
XR_934022.1:n.767A>T
XR_934023.1:n.767A>T
XM_006721516.3:c.660A>T	XP_006721579.2:p.Ser220=
XM_011523829.2:c.660A>T	XP_011522131.1:p.Ser220=
XM_011523830.2:c.660A>T	XP_011522132.1:p.Ser220=
XM_024450741.1:c.660A>T	XP_024306509.1:p.Ser220=
XR_934021.2:n.719A>T
XR_934022.2:n.719A>T
XR_934023.2:n.719A>T
NM_000018.4:c.660A>T MANE Select	NP_000009.1:p.Ser220=
NM_001033859.3:c.594A>T	NP_001029031.1:p.Ser198=
NM_001270447.2:c.729A>T	NP_001257376.1:p.Ser243=
NM_001270448.2:c.432A>T	NP_001257377.1:p.Ser144=