Canonical Allele Identifier: CA397725400

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127678T>G (hg19) ; chr17:g.7224359T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224359T>G , CM000679.2:g.7224359T>G	GRCh38
NC_000017.10:g.7127678T>G , CM000679.1:g.7127678T>G	GRCh37
NC_000017.9:g.7068402T>G	NCBI36
NG_007975.1:g.9526T>G
NG_008391.2:g.692A>C
NG_033038.1:g.15186A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1571T>G MANE Select	ENSP00000349297.5:p.Leu524Arg
ENST00000322910.9:c.*1526T>G	ENSP00000325395.5:n.*1526T>G
ENST00000350303.9:c.1505T>G	ENSP00000344152.5:p.Leu502Arg
ENST00000356839.9:c.1571T>G	ENSP00000349297.5:p.Leu524Arg
ENST00000542255.6:c.429T>G
ENST00000543245.6:c.1640T>G	ENSP00000438689.2:p.Leu547Arg
ENST00000578319.5:n.66T>G
ENST00000578711.1:n.855T>G
ENST00000578809.5:n.143T>G
ENST00000579391.1:n.179T>G
ENST00000579425.5:n.687T>G
ENST00000579546.1:c.310T>G
ENST00000579894.5:n.358T>G
ENST00000582450.1:n.79T>G
ENST00000583074.5:n.192T>G
ENST00000583850.5:n.346T>G
ENST00000583858.5:c.502T>G
ENST00000585203.6:n.762T>G
NM_000018.3:c.1571T>G	NP_000009.1:p.Leu524Arg
NM_001033859.2:c.1505T>G	NP_001029031.1:p.Leu502Arg
NM_001270447.1:c.1640T>G	NP_001257376.1:p.Leu547Arg
NM_001270448.1:c.1343T>G	NP_001257377.1:p.Leu448Arg
XM_006721516.2:c.1571T>G	XP_006721579.2:p.Leu524Arg
XM_011523829.1:c.1473T>G	XP_011522131.1:p.Thr491=
XM_011523830.1:c.1473T>G	XP_011522132.1:p.Thr491=
XR_934021.1:n.1678T>G
XR_934022.1:n.1580T>G
XR_934023.1:n.1580T>G
XM_006721516.3:c.1571T>G	XP_006721579.2:p.Leu524Arg
XM_011523829.2:c.1473T>G	XP_011522131.1:p.Thr491=
XM_011523830.2:c.1473T>G	XP_011522132.1:p.Thr491=
XM_024450741.1:c.1473T>G	XP_024306509.1:p.Thr491=
XR_934021.2:n.1630T>G
XR_934022.2:n.1532T>G
XR_934023.2:n.1532T>G
NM_000018.4:c.1571T>G MANE Select	NP_000009.1:p.Leu524Arg
NM_001033859.3:c.1505T>G	NP_001029031.1:p.Leu502Arg
NM_001270447.2:c.1640T>G	NP_001257376.1:p.Leu547Arg
NM_001270448.2:c.1343T>G	NP_001257377.1:p.Leu448Arg