Canonical Allele Identifier: CA497694535

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128293A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224974A>C , CM000679.2:g.7224974A>C	GRCh38
NC_000017.10:g.7128293A>C , CM000679.1:g.7128293A>C	GRCh37
NC_000017.9:g.7069017A>C	NCBI36
NG_007975.1:g.10141A>C
NG_008391.2:g.77T>G
NG_033038.1:g.14571T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1845A>C MANE Select	ENSP00000349297.5:p.Arg615=
ENST00000322910.9:c.*1800A>C	ENSP00000325395.5:n.*1800A>C
ENST00000350303.9:c.1779A>C	ENSP00000344152.5:p.Arg593=
ENST00000356839.9:c.1845A>C	ENSP00000349297.5:p.Arg615=
ENST00000542255.6:c.724A>C
ENST00000543245.6:c.1914A>C	ENSP00000438689.2:p.Arg638=
ENST00000578033.1:n.270A>C
ENST00000578319.5:n.426A>C
ENST00000578711.1:n.1470A>C
ENST00000578809.5:n.417A>C
ENST00000579425.5:n.961A>C
ENST00000579546.1:c.580A>C
ENST00000583848.5:c.211A>C	ENSP00000466487.1:n.211A>C
ENST00000583850.5:n.616A>C
ENST00000583858.5:c.776A>C
NM_000018.3:c.1845A>C	NP_000009.1:p.Arg615=
NM_001033859.2:c.1779A>C	NP_001029031.1:p.Arg593=
NM_001270447.1:c.1914A>C	NP_001257376.1:p.Arg638=
NM_001270448.1:c.1617A>C	NP_001257377.1:p.Arg539=
XM_006721516.2:c.1866A>C	XP_006721579.2:p.Arg622=
XM_011523829.1:c.1764A>C	XP_011522131.1:p.Arg588=
XM_011523830.1:c.1743A>C	XP_011522132.1:p.Arg581=
XR_934021.1:n.1948A>C
XR_934022.1:n.1854A>C
XR_934023.1:n.1875A>C
XM_006721516.3:c.1866A>C	XP_006721579.2:p.Arg622=
XM_011523829.2:c.1764A>C	XP_011522131.1:p.Arg588=
XM_011523830.2:c.1743A>C	XP_011522132.1:p.Arg581=
XM_024450741.1:c.1833A>C	XP_024306509.1:p.Arg611=
XR_934021.2:n.1900A>C
XR_934022.2:n.1806A>C
XR_934023.2:n.1827A>C
NM_000018.4:c.1845A>C MANE Select	NP_000009.1:p.Arg615=
NM_001033859.3:c.1779A>C	NP_001029031.1:p.Arg593=
NM_001270447.2:c.1914A>C	NP_001257376.1:p.Arg638=
NM_001270448.2:c.1617A>C	NP_001257377.1:p.Arg539=