Canonical Allele Identifier: CA397722868

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221000G>A , CM000679.2:g.7221000G>A	GRCh38
NC_000017.10:g.7124319G>A , CM000679.1:g.7124319G>A	GRCh37
NC_000017.9:g.7065043G>A	NCBI36
NG_007975.1:g.6167G>A
NG_008391.2:g.4051C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.4:c.419G>A MANE Select	NP_000009.1:p.Gly140Glu
ENST00000356839.10:c.419G>A MANE Select	ENSP00000349297.5:p.Gly140Glu
NM_000018.3:c.419G>A	NP_000009.1:p.Gly140Glu
NM_001033859.2:c.353G>A	NP_001029031.1:p.Gly118Glu
NM_001033859.3:c.353G>A	NP_001029031.1:p.Gly118Glu
NM_001270447.1:c.488G>A	NP_001257376.1:p.Gly163Glu
NM_001270447.2:c.488G>A	NP_001257376.1:p.Gly163Glu
NM_001270448.1:c.191G>A	NP_001257377.1:p.Gly64Glu
NM_001270448.2:c.191G>A	NP_001257377.1:p.Gly64Glu
ENST00000322910.9:c.*374G>A	ENSP00000325395.5:n.*374G>A
ENST00000350303.9:c.353G>A	ENSP00000344152.5:p.Gly118Glu
ENST00000356839.9:c.419G>A	ENSP00000349297.5:p.Gly140Glu
ENST00000543245.6:c.488G>A	ENSP00000438689.2:p.Gly163Glu
ENST00000577191.5:n.496G>A
ENST00000577433.5:n.627G>A
ENST00000577857.5:n.293+170G>A
ENST00000579286.5:n.600G>A
ENST00000579886.2:c.257G>A	ENSP00000463246.1:p.Gly86Glu
ENST00000580365.1:n.150G>A
ENST00000581378.5:c.118G>A
ENST00000581562.5:n.466G>A
ENST00000582056.5:n.602G>A
ENST00000582166.1:n.400G>A
ENST00000583312.5:c.419G>A	ENSP00000467920.1:p.Gly140Glu
ENST00000584103.5:c.452G>A	ENSP00000465353.1:p.Gly151Glu
XM_006721516.2:c.419G>A	XP_006721579.2:p.Gly140Glu
XM_006721516.3:c.419G>A	XP_006721579.2:p.Gly140Glu
XM_011523829.1:c.419G>A	XP_011522131.1:p.Gly140Glu
XM_011523829.2:c.419G>A	XP_011522131.1:p.Gly140Glu
XM_011523830.1:c.419G>A	XP_011522132.1:p.Gly140Glu
XM_011523830.2:c.419G>A	XP_011522132.1:p.Gly140Glu
XM_024450741.1:c.419G>A	XP_024306509.1:p.Gly140Glu
XR_934021.1:n.526G>A
XR_934021.2:n.478G>A
XR_934022.1:n.526G>A
XR_934022.2:n.478G>A
XR_934023.1:n.526G>A
XR_934023.2:n.478G>A