Canonical Allele Identifier: CA497620168

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125995T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222676T>G , CM000679.2:g.7222676T>G	GRCh38
NC_000017.10:g.7125995T>G , CM000679.1:g.7125995T>G	GRCh37
NC_000017.9:g.7066719T>G	NCBI36
NG_007975.1:g.7843T>G
NG_008391.2:g.2375A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.888T>G MANE Select	ENSP00000349297.5:p.Pro296=
ENST00000322910.9:c.*843T>G	ENSP00000325395.5:n.*843T>G
ENST00000350303.9:c.822T>G	ENSP00000344152.5:p.Pro274=
ENST00000356839.9:c.888T>G	ENSP00000349297.5:p.Pro296=
ENST00000543245.6:c.957T>G	ENSP00000438689.2:p.Pro319=
ENST00000578824.5:n.37T>G
ENST00000581378.5:c.606T>G
ENST00000582379.1:n.272T>G
NM_000018.3:c.888T>G	NP_000009.1:p.Pro296=
NM_001033859.2:c.822T>G	NP_001029031.1:p.Pro274=
NM_001270447.1:c.957T>G	NP_001257376.1:p.Pro319=
NM_001270448.1:c.660T>G	NP_001257377.1:p.Pro220=
XM_006721516.2:c.888T>G	XP_006721579.2:p.Pro296=
XM_011523829.1:c.888T>G	XP_011522131.1:p.Pro296=
XM_011523830.1:c.888T>G	XP_011522132.1:p.Pro296=
XR_934021.1:n.995T>G
XR_934022.1:n.995T>G
XR_934023.1:n.995T>G
XM_006721516.3:c.888T>G	XP_006721579.2:p.Pro296=
XM_011523829.2:c.888T>G	XP_011522131.1:p.Pro296=
XM_011523830.2:c.888T>G	XP_011522132.1:p.Pro296=
XM_024450741.1:c.888T>G	XP_024306509.1:p.Pro296=
XR_934021.2:n.947T>G
XR_934022.2:n.947T>G
XR_934023.2:n.947T>G
NM_000018.4:c.888T>G MANE Select	NP_000009.1:p.Pro296=
NM_001033859.3:c.822T>G	NP_001029031.1:p.Pro274=
NM_001270447.2:c.957T>G	NP_001257376.1:p.Pro319=
NM_001270448.2:c.660T>G	NP_001257377.1:p.Pro220=