Canonical Allele Identifier: CA397725873

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2155527
• ClinVar RCV Id: RCV003072383
• MyVariant Identifiers: chr17:g.7128160C>G (hg19) ; chr17:g.7224841C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224841C>G , CM000679.2:g.7224841C>G	GRCh38
NC_000017.10:g.7128160C>G , CM000679.1:g.7128160C>G	GRCh37
NC_000017.9:g.7068884C>G	NCBI36
NG_007975.1:g.10008C>G
NG_008391.2:g.210G>C
NG_033038.1:g.14704G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1784C>G MANE Select	ENSP00000349297.5:p.Thr595Arg
ENST00000322910.9:c.*1739C>G	ENSP00000325395.5:n.*1739C>G
ENST00000350303.9:c.1718C>G	ENSP00000344152.5:p.Thr573Arg
ENST00000356839.9:c.1784C>G	ENSP00000349297.5:p.Thr595Arg
ENST00000542255.6:c.663C>G
ENST00000543245.6:c.1853C>G	ENSP00000438689.2:p.Thr618Arg
ENST00000578033.1:n.209C>G
ENST00000578319.5:n.365C>G
ENST00000578711.1:n.1337C>G
ENST00000578809.5:n.356C>G
ENST00000579425.5:n.900C>G
ENST00000579546.1:c.519C>G
ENST00000583848.5:c.150C>G	ENSP00000466487.1:n.150C>G
ENST00000583850.5:n.555C>G
ENST00000583858.5:c.715C>G
NM_000018.3:c.1784C>G	NP_000009.1:p.Thr595Arg
NM_001033859.2:c.1718C>G	NP_001029031.1:p.Thr573Arg
NM_001270447.1:c.1853C>G	NP_001257376.1:p.Thr618Arg
NM_001270448.1:c.1556C>G	NP_001257377.1:p.Thr519Arg
XM_006721516.2:c.1805C>G	XP_006721579.2:p.Thr602Arg
XM_011523829.1:c.1703C>G	XP_011522131.1:p.Thr568Arg
XM_011523830.1:c.1682C>G	XP_011522132.1:p.Thr561Arg
XR_934021.1:n.1887C>G
XR_934022.1:n.1793C>G
XR_934023.1:n.1814C>G
XM_006721516.3:c.1805C>G	XP_006721579.2:p.Thr602Arg
XM_011523829.2:c.1703C>G	XP_011522131.1:p.Thr568Arg
XM_011523830.2:c.1682C>G	XP_011522132.1:p.Thr561Arg
XM_024450741.1:c.1772C>G	XP_024306509.1:p.Thr591Arg
XR_934021.2:n.1839C>G
XR_934022.2:n.1745C>G
XR_934023.2:n.1766C>G
NM_000018.4:c.1784C>G MANE Select	NP_000009.1:p.Thr595Arg
NM_001033859.3:c.1718C>G	NP_001029031.1:p.Thr573Arg
NM_001270447.2:c.1853C>G	NP_001257376.1:p.Thr618Arg
NM_001270448.2:c.1556C>G	NP_001257377.1:p.Thr519Arg