Canonical Allele Identifier: CA497694244

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2836728
• ClinVar RCV Id: RCV003602176
• gnomAD v4: 17-7224679-C-G
• MyVariant Identifiers: chr17:g.7127998C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224679C>G , CM000679.2:g.7224679C>G	GRCh38
NC_000017.10:g.7127998C>G , CM000679.1:g.7127998C>G	GRCh37
NC_000017.9:g.7068722C>G	NCBI36
NG_007975.1:g.9846C>G
NG_008391.2:g.372G>C
NG_033038.1:g.14866G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1716C>G MANE Select	ENSP00000349297.5:p.Ala572=
ENST00000322910.9:c.*1671C>G	ENSP00000325395.5:n.*1671C>G
ENST00000350303.9:c.1650C>G	ENSP00000344152.5:p.Ala550=
ENST00000356839.9:c.1716C>G	ENSP00000349297.5:p.Ala572=
ENST00000542255.6:c.537-36C>G
ENST00000543245.6:c.1785C>G	ENSP00000438689.2:p.Ala595=
ENST00000578033.1:n.47C>G
ENST00000578319.5:n.297C>G
ENST00000578711.1:n.1175C>G
ENST00000578809.5:n.288C>G
ENST00000579425.5:n.832C>G
ENST00000579546.1:c.451C>G
ENST00000583074.5:n.300-36C>G
ENST00000583848.5:c.82C>G	ENSP00000466487.1:p.His28Asp
ENST00000583850.5:n.487C>G
ENST00000583858.5:c.647C>G
ENST00000585203.6:n.907C>G
NM_000018.3:c.1716C>G	NP_000009.1:p.Ala572=
NM_001033859.2:c.1650C>G	NP_001029031.1:p.Ala550=
NM_001270447.1:c.1785C>G	NP_001257376.1:p.Ala595=
NM_001270448.1:c.1488C>G	NP_001257377.1:p.Ala496=
XM_006721516.2:c.1679-36C>G	XP_006721579.2:n.1679-36C>G
XM_011523829.1:c.1577-36C>G	XP_011522131.1:n.1577-36C>G
XM_011523830.1:c.1614C>G	XP_011522132.1:p.Ala538=
XR_934021.1:n.1819C>G
XR_934022.1:n.1725C>G
XR_934023.1:n.1688-36C>G
XM_006721516.3:c.1679-36C>G	XP_006721579.2:n.1679-36C>G
XM_011523829.2:c.1577-36C>G	XP_011522131.1:n.1577-36C>G
XM_011523830.2:c.1614C>G	XP_011522132.1:p.Ala538=
XM_024450741.1:c.1704C>G	XP_024306509.1:p.Ala568=
XR_934021.2:n.1771C>G
XR_934022.2:n.1677C>G
XR_934023.2:n.1640-36C>G
NM_000018.4:c.1716C>G MANE Select	NP_000009.1:p.Ala572=
NM_001033859.3:c.1650C>G	NP_001029031.1:p.Ala550=
NM_001270447.2:c.1785C>G	NP_001257376.1:p.Ala595=
NM_001270448.2:c.1488C>G	NP_001257377.1:p.Ala496=