Canonical Allele Identifier: CA497694422

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1156707
• ClinVar RCV Id: RCV001499492
• dbSNP Id: rs2142990923
• MyVariant Identifiers: chr17:g.7128191C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224872C>G , CM000679.2:g.7224872C>G	GRCh38
NC_000017.10:g.7128191C>G , CM000679.1:g.7128191C>G	GRCh37
NC_000017.9:g.7068915C>G	NCBI36
NG_007975.1:g.10039C>G
NG_008391.2:g.179G>C
NG_033038.1:g.14673G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1815C>G MANE Select	ENSP00000349297.5:p.Thr605=
ENST00000322910.9:c.*1770C>G	ENSP00000325395.5:n.*1770C>G
ENST00000350303.9:c.1749C>G	ENSP00000344152.5:p.Thr583=
ENST00000356839.9:c.1815C>G	ENSP00000349297.5:p.Thr605=
ENST00000542255.6:c.694C>G
ENST00000543245.6:c.1884C>G	ENSP00000438689.2:p.Thr628=
ENST00000578033.1:n.240C>G
ENST00000578319.5:n.396C>G
ENST00000578711.1:n.1368C>G
ENST00000578809.5:n.387C>G
ENST00000579425.5:n.931C>G
ENST00000579546.1:c.550C>G
ENST00000583848.5:c.181C>G	ENSP00000466487.1:n.181C>G
ENST00000583850.5:n.586C>G
ENST00000583858.5:c.746C>G
NM_000018.3:c.1815C>G	NP_000009.1:p.Thr605=
NM_001033859.2:c.1749C>G	NP_001029031.1:p.Thr583=
NM_001270447.1:c.1884C>G	NP_001257376.1:p.Thr628=
NM_001270448.1:c.1587C>G	NP_001257377.1:p.Thr529=
XM_006721516.2:c.1836C>G	XP_006721579.2:p.Thr612=
XM_011523829.1:c.1734C>G	XP_011522131.1:p.Thr578=
XM_011523830.1:c.1713C>G	XP_011522132.1:p.Thr571=
XR_934021.1:n.1918C>G
XR_934022.1:n.1824C>G
XR_934023.1:n.1845C>G
XM_006721516.3:c.1836C>G	XP_006721579.2:p.Thr612=
XM_011523829.2:c.1734C>G	XP_011522131.1:p.Thr578=
XM_011523830.2:c.1713C>G	XP_011522132.1:p.Thr571=
XM_024450741.1:c.1803C>G	XP_024306509.1:p.Thr601=
XR_934021.2:n.1870C>G
XR_934022.2:n.1776C>G
XR_934023.2:n.1797C>G
NM_000018.4:c.1815C>G MANE Select	NP_000009.1:p.Thr605=
NM_001033859.3:c.1749C>G	NP_001029031.1:p.Thr583=
NM_001270447.2:c.1884C>G	NP_001257376.1:p.Thr628=
NM_001270448.2:c.1587C>G	NP_001257377.1:p.Thr529=