Canonical Allele Identifier: CA497694239

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127995G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224676G>A , CM000679.2:g.7224676G>A	GRCh38
NC_000017.10:g.7127995G>A , CM000679.1:g.7127995G>A	GRCh37
NC_000017.9:g.7068719G>A	NCBI36
NG_007975.1:g.9843G>A
NG_008391.2:g.375C>T
NG_033038.1:g.14869C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1713G>A MANE Select	ENSP00000349297.5:p.Gly571=
ENST00000322910.9:c.*1668G>A	ENSP00000325395.5:n.*1668G>A
ENST00000350303.9:c.1647G>A	ENSP00000344152.5:p.Gly549=
ENST00000356839.9:c.1713G>A	ENSP00000349297.5:p.Gly571=
ENST00000542255.6:c.537-39G>A
ENST00000543245.6:c.1782G>A	ENSP00000438689.2:p.Gly594=
ENST00000578033.1:n.44G>A
ENST00000578319.5:n.294G>A
ENST00000578711.1:n.1172G>A
ENST00000578809.5:n.285G>A
ENST00000579425.5:n.829G>A
ENST00000579546.1:c.448G>A
ENST00000583074.5:n.300-39G>A
ENST00000583848.5:c.79G>A	ENSP00000466487.1:p.Gly27Ser
ENST00000583850.5:n.484G>A
ENST00000583858.5:c.644G>A
ENST00000585203.6:n.904G>A
NM_000018.3:c.1713G>A	NP_000009.1:p.Gly571=
NM_001033859.2:c.1647G>A	NP_001029031.1:p.Gly549=
NM_001270447.1:c.1782G>A	NP_001257376.1:p.Gly594=
NM_001270448.1:c.1485G>A	NP_001257377.1:p.Gly495=
XM_006721516.2:c.1679-39G>A	XP_006721579.2:n.1679-39G>A
XM_011523829.1:c.1577-39G>A	XP_011522131.1:n.1577-39G>A
XM_011523830.1:c.1611G>A	XP_011522132.1:p.Gly537=
XR_934021.1:n.1816G>A
XR_934022.1:n.1722G>A
XR_934023.1:n.1688-39G>A
XM_006721516.3:c.1679-39G>A	XP_006721579.2:n.1679-39G>A
XM_011523829.2:c.1577-39G>A	XP_011522131.1:n.1577-39G>A
XM_011523830.2:c.1611G>A	XP_011522132.1:p.Gly537=
XM_024450741.1:c.1701G>A	XP_024306509.1:p.Gly567=
XR_934021.2:n.1768G>A
XR_934022.2:n.1674G>A
XR_934023.2:n.1640-39G>A
NM_000018.4:c.1713G>A MANE Select	NP_000009.1:p.Gly571=
NM_001033859.3:c.1647G>A	NP_001029031.1:p.Gly549=
NM_001270447.2:c.1782G>A	NP_001257376.1:p.Gly594=
NM_001270448.2:c.1485G>A	NP_001257377.1:p.Gly495=