Canonical Allele Identifier: CA497694557

Gene: ACADVL

Linked Data

• dbSNP Id: rs1597541157
• gnomAD v4: 17-7225013-A-G
• MyVariant Identifiers: chr17:g.7128332A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225013A>G , CM000679.2:g.7225013A>G	GRCh38
NC_000017.10:g.7128332A>G , CM000679.1:g.7128332A>G	GRCh37
NC_000017.9:g.7069056A>G	NCBI36
NG_007975.1:g.10180A>G
NG_008391.2:g.38T>C
NG_033038.1:g.14532T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1884A>G MANE Select	ENSP00000349297.5:p.Gln628=
ENST00000322910.9:c.*1839A>G	ENSP00000325395.5:n.*1839A>G
ENST00000350303.9:c.1818A>G	ENSP00000344152.5:p.Gln606=
ENST00000356839.9:c.1884A>G	ENSP00000349297.5:p.Gln628=
ENST00000542255.6:c.763A>G
ENST00000543245.6:c.1953A>G	ENSP00000438689.2:p.Gln651=
ENST00000578033.1:n.309A>G
ENST00000578319.5:n.465A>G
ENST00000578711.1:n.1509A>G
ENST00000578809.5:n.456A>G
ENST00000579425.5:n.1000A>G
ENST00000583848.5:c.250A>G	ENSP00000466487.1:n.250A>G
ENST00000583850.5:n.655A>G
ENST00000583858.5:c.815A>G
NM_000018.3:c.1884A>G	NP_000009.1:p.Gln628=
NM_001033859.2:c.1818A>G	NP_001029031.1:p.Gln606=
NM_001270447.1:c.1953A>G	NP_001257376.1:p.Gln651=
NM_001270448.1:c.1656A>G	NP_001257377.1:p.Gln552=
XM_006721516.2:c.1905A>G	XP_006721579.2:p.Gln635=
XM_011523829.1:c.1803A>G	XP_011522131.1:p.Gln601=
XM_011523830.1:c.1782A>G	XP_011522132.1:p.Gln594=
XR_934021.1:n.1987A>G
XR_934022.1:n.1893A>G
XR_934023.1:n.1914A>G
XM_006721516.3:c.1905A>G	XP_006721579.2:p.Gln635=
XM_011523829.2:c.1803A>G	XP_011522131.1:p.Gln601=
XM_011523830.2:c.1782A>G	XP_011522132.1:p.Gln594=
XM_024450741.1:c.1872A>G	XP_024306509.1:p.Gln624=
XR_934021.2:n.1939A>G
XR_934022.2:n.1845A>G
XR_934023.2:n.1866A>G
NM_000018.4:c.1884A>G MANE Select	NP_000009.1:p.Gln628=
NM_001033859.3:c.1818A>G	NP_001029031.1:p.Gln606=
NM_001270447.2:c.1953A>G	NP_001257376.1:p.Gln651=
NM_001270448.2:c.1656A>G	NP_001257377.1:p.Gln552=