Canonical Allele Identifier: CA279923

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224662C>T , CM000679.2:g.7224662C>T	GRCh38
NC_000017.10:g.7127981C>T , CM000679.1:g.7127981C>T	GRCh37
NC_000017.9:g.7068705C>T	NCBI36
NG_007975.1:g.9829C>T
NG_008391.2:g.389G>A
NG_033038.1:g.14883G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.4:c.1699C>T MANE Select	NP_000009.1:p.Arg567Trp
ENST00000356839.10:c.1699C>T MANE Select	ENSP00000349297.5:p.Arg567Trp
NM_000018.3:c.1699C>T	NP_000009.1:p.Arg567Trp
NM_001033859.2:c.1633C>T	NP_001029031.1:p.Arg545Trp
NM_001033859.3:c.1633C>T	NP_001029031.1:p.Arg545Trp
NM_001270447.1:c.1768C>T	NP_001257376.1:p.Arg590Trp
NM_001270447.2:c.1768C>T	NP_001257376.1:p.Arg590Trp
NM_001270448.1:c.1471C>T	NP_001257377.1:p.Arg491Trp
NM_001270448.2:c.1471C>T	NP_001257377.1:p.Arg491Trp
ENST00000322910.9:c.*1654C>T	ENSP00000325395.5:n.*1654C>T
ENST00000350303.9:c.1633C>T	ENSP00000344152.5:p.Arg545Trp
ENST00000356839.9:c.1699C>T	ENSP00000349297.5:p.Arg567Trp
ENST00000542255.6:c.537-53C>T
ENST00000543245.6:c.1768C>T	ENSP00000438689.2:p.Arg590Trp
ENST00000578033.1:n.30C>T
ENST00000578319.5:n.280C>T
ENST00000578711.1:n.1158C>T
ENST00000578809.5:n.271C>T
ENST00000579425.5:n.815C>T
ENST00000579546.1:c.434C>T
ENST00000583074.5:n.300-53C>T
ENST00000583848.5:c.65C>T	ENSP00000466487.1:p.Thr22Met
ENST00000583850.5:n.470C>T
ENST00000583858.5:c.630C>T
ENST00000585203.6:n.890C>T
XM_006721516.2:c.1679-53C>T	XP_006721579.2:n.1679-53C>T
XM_006721516.3:c.1679-53C>T	XP_006721579.2:n.1679-53C>T
XM_011523829.1:c.1577-53C>T	XP_011522131.1:n.1577-53C>T
XM_011523829.2:c.1577-53C>T	XP_011522131.1:n.1577-53C>T
XM_011523830.1:c.1597C>T	XP_011522132.1:p.Arg533Trp
XM_011523830.2:c.1597C>T	XP_011522132.1:p.Arg533Trp
XM_024450741.1:c.1687C>T	XP_024306509.1:p.Arg563Trp
XR_934021.1:n.1802C>T
XR_934021.2:n.1754C>T
XR_934022.1:n.1708C>T
XR_934022.2:n.1660C>T
XR_934023.1:n.1688-53C>T
XR_934023.2:n.1640-53C>T