Canonical Allele Identifier: CA397725778

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128024T>G (hg19) ; chr17:g.7224705T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224705T>G , CM000679.2:g.7224705T>G	GRCh38
NC_000017.10:g.7128024T>G , CM000679.1:g.7128024T>G	GRCh37
NC_000017.9:g.7068748T>G	NCBI36
NG_007975.1:g.9872T>G
NG_008391.2:g.346A>C
NG_033038.1:g.14840A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1742T>G MANE Select	ENSP00000349297.5:p.Val581Gly
ENST00000322910.9:c.*1697T>G	ENSP00000325395.5:n.*1697T>G
ENST00000350303.9:c.1676T>G	ENSP00000344152.5:p.Val559Gly
ENST00000356839.9:c.1742T>G	ENSP00000349297.5:p.Val581Gly
ENST00000542255.6:c.537-10T>G
ENST00000543245.6:c.1811T>G	ENSP00000438689.2:p.Val604Gly
ENST00000578033.1:n.73T>G
ENST00000578319.5:n.323T>G
ENST00000578711.1:n.1201T>G
ENST00000578809.5:n.314T>G
ENST00000579425.5:n.858T>G
ENST00000579546.1:c.477T>G
ENST00000583074.5:n.300-10T>G
ENST00000583848.5:c.108T>G	ENSP00000466487.1:p.Gly36=
ENST00000583850.5:n.513T>G
ENST00000583858.5:c.673T>G
ENST00000585203.6:n.933T>G
NM_000018.3:c.1742T>G	NP_000009.1:p.Val581Gly
NM_001033859.2:c.1676T>G	NP_001029031.1:p.Val559Gly
NM_001270447.1:c.1811T>G	NP_001257376.1:p.Val604Gly
NM_001270448.1:c.1514T>G	NP_001257377.1:p.Val505Gly
XM_006721516.2:c.1679-10T>G	XP_006721579.2:n.1679-10T>G
XM_011523829.1:c.1577-10T>G	XP_011522131.1:n.1577-10T>G
XM_011523830.1:c.1640T>G	XP_011522132.1:p.Val547Gly
XR_934021.1:n.1845T>G
XR_934022.1:n.1751T>G
XR_934023.1:n.1688-10T>G
XM_006721516.3:c.1679-10T>G	XP_006721579.2:n.1679-10T>G
XM_011523829.2:c.1577-10T>G	XP_011522131.1:n.1577-10T>G
XM_011523830.2:c.1640T>G	XP_011522132.1:p.Val547Gly
XM_024450741.1:c.1730T>G	XP_024306509.1:p.Val577Gly
XR_934021.2:n.1797T>G
XR_934022.2:n.1703T>G
XR_934023.2:n.1640-10T>G
NM_000018.4:c.1742T>G MANE Select	NP_000009.1:p.Val581Gly
NM_001033859.3:c.1676T>G	NP_001029031.1:p.Val559Gly
NM_001270447.2:c.1811T>G	NP_001257376.1:p.Val604Gly
NM_001270448.2:c.1514T>G	NP_001257377.1:p.Val505Gly