Canonical Allele Identifier: CA397725788

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224711C>T , CM000679.2:g.7224711C>T	GRCh38
NC_000017.10:g.7128030C>T , CM000679.1:g.7128030C>T	GRCh37
NC_000017.9:g.7068754C>T	NCBI36
NG_007975.1:g.9878C>T
NG_008391.2:g.340G>A
NG_033038.1:g.14834G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.4:c.1748C>T MANE Select	NP_000009.1:p.Ser583Leu
ENST00000356839.10:c.1748C>T MANE Select	ENSP00000349297.5:p.Ser583Leu
NM_000018.3:c.1748C>T	NP_000009.1:p.Ser583Leu
NM_001033859.2:c.1682C>T	NP_001029031.1:p.Ser561Leu
NM_001033859.3:c.1682C>T	NP_001029031.1:p.Ser561Leu
NM_001270447.1:c.1817C>T	NP_001257376.1:p.Ser606Leu
NM_001270447.2:c.1817C>T	NP_001257376.1:p.Ser606Leu
NM_001270448.1:c.1520C>T	NP_001257377.1:p.Ser507Leu
NM_001270448.2:c.1520C>T	NP_001257377.1:p.Ser507Leu
ENST00000322910.9:c.*1703C>T	ENSP00000325395.5:n.*1703C>T
ENST00000350303.9:c.1682C>T	ENSP00000344152.5:p.Ser561Leu
ENST00000356839.9:c.1748C>T	ENSP00000349297.5:p.Ser583Leu
ENST00000542255.6:c.537-4C>T
ENST00000543245.6:c.1817C>T	ENSP00000438689.2:p.Ser606Leu
ENST00000578033.1:n.79C>T
ENST00000578319.5:n.329C>T
ENST00000578711.1:n.1207C>T
ENST00000578809.5:n.320C>T
ENST00000579425.5:n.864C>T
ENST00000579546.1:c.483C>T
ENST00000583074.5:n.300-4C>T
ENST00000583848.5:c.114C>T	ENSP00000466487.1:p.Leu38=
ENST00000583850.5:n.519C>T
ENST00000583858.5:c.679C>T
ENST00000585203.6:n.939C>T
XM_006721516.2:c.1679-4C>T	XP_006721579.2:n.1679-4C>T
XM_006721516.3:c.1679-4C>T	XP_006721579.2:n.1679-4C>T
XM_011523829.1:c.1577-4C>T	XP_011522131.1:n.1577-4C>T
XM_011523829.2:c.1577-4C>T	XP_011522131.1:n.1577-4C>T
XM_011523830.1:c.1646C>T	XP_011522132.1:p.Ser549Leu
XM_011523830.2:c.1646C>T	XP_011522132.1:p.Ser549Leu
XM_024450741.1:c.1736C>T	XP_024306509.1:p.Ser579Leu
XR_934021.1:n.1851C>T
XR_934021.2:n.1803C>T
XR_934022.1:n.1757C>T
XR_934022.2:n.1709C>T
XR_934023.1:n.1688-4C>T
XR_934023.2:n.1640-4C>T