Canonical Allele Identifier: CA497694450

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224664-G-T
• MyVariant Identifiers: chr17:g.7127983G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224664G>T , CM000679.2:g.7224664G>T	GRCh38
NC_000017.10:g.7127983G>T , CM000679.1:g.7127983G>T	GRCh37
NC_000017.9:g.7068707G>T	NCBI36
NG_007975.1:g.9831G>T
NG_008391.2:g.387C>A
NG_033038.1:g.14881C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1701G>T MANE Select	ENSP00000349297.5:p.Arg567=
ENST00000322910.9:c.*1656G>T	ENSP00000325395.5:n.*1656G>T
ENST00000350303.9:c.1635G>T	ENSP00000344152.5:p.Arg545=
ENST00000356839.9:c.1701G>T	ENSP00000349297.5:p.Arg567=
ENST00000542255.6:c.537-51G>T
ENST00000543245.6:c.1770G>T	ENSP00000438689.2:p.Arg590=
ENST00000578033.1:n.32G>T
ENST00000578319.5:n.282G>T
ENST00000578711.1:n.1160G>T
ENST00000578809.5:n.273G>T
ENST00000579425.5:n.817G>T
ENST00000579546.1:c.436G>T
ENST00000583074.5:n.300-51G>T
ENST00000583848.5:c.67G>T	ENSP00000466487.1:p.Ala23Ser
ENST00000583850.5:n.472G>T
ENST00000583858.5:c.632G>T
ENST00000585203.6:n.892G>T
NM_000018.3:c.1701G>T	NP_000009.1:p.Arg567=
NM_001033859.2:c.1635G>T	NP_001029031.1:p.Arg545=
NM_001270447.1:c.1770G>T	NP_001257376.1:p.Arg590=
NM_001270448.1:c.1473G>T	NP_001257377.1:p.Arg491=
XM_006721516.2:c.1679-51G>T	XP_006721579.2:n.1679-51G>T
XM_011523829.1:c.1577-51G>T	XP_011522131.1:n.1577-51G>T
XM_011523830.1:c.1599G>T	XP_011522132.1:p.Arg533=
XR_934021.1:n.1804G>T
XR_934022.1:n.1710G>T
XR_934023.1:n.1688-51G>T
XM_006721516.3:c.1679-51G>T	XP_006721579.2:n.1679-51G>T
XM_011523829.2:c.1577-51G>T	XP_011522131.1:n.1577-51G>T
XM_011523830.2:c.1599G>T	XP_011522132.1:p.Arg533=
XM_024450741.1:c.1689G>T	XP_024306509.1:p.Arg563=
XR_934021.2:n.1756G>T
XR_934022.2:n.1662G>T
XR_934023.2:n.1640-51G>T
NM_000018.4:c.1701G>T MANE Select	NP_000009.1:p.Arg567=
NM_001033859.3:c.1635G>T	NP_001029031.1:p.Arg545=
NM_001270447.2:c.1770G>T	NP_001257376.1:p.Arg590=
NM_001270448.2:c.1473G>T	NP_001257377.1:p.Arg491=