Canonical Allele Identifier: CA397725947

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1716323
• ClinVar RCV Id: RCV002303401
• MyVariant Identifiers: chr17:g.7128190C>G (hg19) ; chr17:g.7224871C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224871C>G , CM000679.2:g.7224871C>G	GRCh38
NC_000017.10:g.7128190C>G , CM000679.1:g.7128190C>G	GRCh37
NC_000017.9:g.7068914C>G	NCBI36
NG_007975.1:g.10038C>G
NG_008391.2:g.180G>C
NG_033038.1:g.14674G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1814C>G MANE Select	ENSP00000349297.5:p.Thr605Ser
ENST00000322910.9:c.*1769C>G	ENSP00000325395.5:n.*1769C>G
ENST00000350303.9:c.1748C>G	ENSP00000344152.5:p.Thr583Ser
ENST00000356839.9:c.1814C>G	ENSP00000349297.5:p.Thr605Ser
ENST00000542255.6:c.693C>G
ENST00000543245.6:c.1883C>G	ENSP00000438689.2:p.Thr628Ser
ENST00000578033.1:n.239C>G
ENST00000578319.5:n.395C>G
ENST00000578711.1:n.1367C>G
ENST00000578809.5:n.386C>G
ENST00000579425.5:n.930C>G
ENST00000579546.1:c.549C>G
ENST00000583848.5:c.180C>G	ENSP00000466487.1:n.180C>G
ENST00000583850.5:n.585C>G
ENST00000583858.5:c.745C>G
NM_000018.3:c.1814C>G	NP_000009.1:p.Thr605Ser
NM_001033859.2:c.1748C>G	NP_001029031.1:p.Thr583Ser
NM_001270447.1:c.1883C>G	NP_001257376.1:p.Thr628Ser
NM_001270448.1:c.1586C>G	NP_001257377.1:p.Thr529Ser
XM_006721516.2:c.1835C>G	XP_006721579.2:p.Thr612Ser
XM_011523829.1:c.1733C>G	XP_011522131.1:p.Thr578Ser
XM_011523830.1:c.1712C>G	XP_011522132.1:p.Thr571Ser
XR_934021.1:n.1917C>G
XR_934022.1:n.1823C>G
XR_934023.1:n.1844C>G
XM_006721516.3:c.1835C>G	XP_006721579.2:p.Thr612Ser
XM_011523829.2:c.1733C>G	XP_011522131.1:p.Thr578Ser
XM_011523830.2:c.1712C>G	XP_011522132.1:p.Thr571Ser
XM_024450741.1:c.1802C>G	XP_024306509.1:p.Thr601Ser
XR_934021.2:n.1869C>G
XR_934022.2:n.1775C>G
XR_934023.2:n.1796C>G
NM_000018.4:c.1814C>G MANE Select	NP_000009.1:p.Thr605Ser
NM_001033859.3:c.1748C>G	NP_001029031.1:p.Thr583Ser
NM_001270447.2:c.1883C>G	NP_001257376.1:p.Thr628Ser
NM_001270448.2:c.1586C>G	NP_001257377.1:p.Thr529Ser