Canonical Allele Identifier: CA397725803

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224807A>G , CM000679.2:g.7224807A>G	GRCh38
NC_000017.10:g.7128126A>G , CM000679.1:g.7128126A>G	GRCh37
NC_000017.9:g.7068850A>G	NCBI36
NG_007975.1:g.9974A>G
NG_008391.2:g.244T>C
NG_033038.1:g.14738T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.4:c.1752-2A>G MANE Select	NP_000009.1:n.1752-2A>G
ENST00000356839.10:c.1752-2A>G MANE Select	ENSP00000349297.5:n.1752-2A>G
NM_000018.3:c.1752-2A>G	NP_000009.1:n.1752-2A>G
NM_001033859.2:c.1686-2A>G	NP_001029031.1:n.1686-2A>G
NM_001033859.3:c.1686-2A>G	NP_001029031.1:n.1686-2A>G
NM_001270447.1:c.1821-2A>G	NP_001257376.1:n.1821-2A>G
NM_001270447.2:c.1821-2A>G	NP_001257376.1:n.1821-2A>G
NM_001270448.1:c.1524-2A>G	NP_001257377.1:n.1524-2A>G
NM_001270448.2:c.1524-2A>G	NP_001257377.1:n.1524-2A>G
ENST00000322910.9:c.*1707-2A>G	ENSP00000325395.5:n.*1707-2A>G
ENST00000350303.9:c.1686-2A>G	ENSP00000344152.5:n.1686-2A>G
ENST00000356839.9:c.1752-2A>G	ENSP00000349297.5:n.1752-2A>G
ENST00000542255.6:c.629A>G
ENST00000543245.6:c.1821-2A>G	ENSP00000438689.2:n.1821-2A>G
ENST00000578033.1:n.175A>G
ENST00000578319.5:n.333-2A>G
ENST00000578711.1:n.1303A>G
ENST00000578809.5:n.324-2A>G
ENST00000579425.5:n.868-2A>G
ENST00000579546.1:c.487-2A>G
ENST00000583074.5:n.392A>G
ENST00000583848.5:c.118-2A>G	ENSP00000466487.1:n.118-2A>G
ENST00000583850.5:n.523-2A>G
ENST00000583858.5:c.683-2A>G
ENST00000585203.6:n.943-2A>G
XM_006721516.2:c.1771A>G	XP_006721579.2:p.Arg591Gly
XM_006721516.3:c.1771A>G	XP_006721579.2:p.Arg591Gly
XM_011523829.1:c.1669A>G	XP_011522131.1:p.Arg557Gly
XM_011523829.2:c.1669A>G	XP_011522131.1:p.Arg557Gly
XM_011523830.1:c.1650-2A>G	XP_011522132.1:n.1650-2A>G
XM_011523830.2:c.1650-2A>G	XP_011522132.1:n.1650-2A>G
XM_024450741.1:c.1740-2A>G	XP_024306509.1:n.1740-2A>G
XR_934021.1:n.1855-2A>G
XR_934021.2:n.1807-2A>G
XR_934022.1:n.1761-2A>G
XR_934022.2:n.1713-2A>G
XR_934023.1:n.1780A>G
XR_934023.2:n.1732A>G