Canonical Allele Identifier: CA2245714611

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224547T= , CM000679.2:g.7224547T=	GRCh38
NC_000017.10:g.7127866T= , CM000679.1:g.7127866T=	GRCh37
NC_000017.9:g.7068590T=	NCBI36
NG_007975.1:g.9714T=
NG_008391.2:g.504A=
NG_033038.1:g.14998A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1673T= MANE Select	ENSP00000349297.5:p.Ile558=
ENST00000322910.9:c.*1628T=	ENSP00000325395.5:n.*1628T=
ENST00000350303.9:c.1607T=	ENSP00000344152.5:p.Ile536=
ENST00000356839.9:c.1673T=	ENSP00000349297.5:p.Ile558=
ENST00000542255.6:c.531T=
ENST00000543245.6:c.1742T=	ENSP00000438689.2:p.Ile581=
ENST00000578319.5:n.254T=
ENST00000578711.1:n.1043T=
ENST00000578809.5:n.245T=
ENST00000579391.1:n.277T=
ENST00000579425.5:n.789T=
ENST00000579546.1:c.408T=
ENST00000582450.1:n.181T=
ENST00000583074.5:n.294T=
ENST00000583848.5:c.59T=	ENSP00000466487.1:p.Ile20=
ENST00000583850.5:n.444T=
ENST00000583858.5:c.604T=
ENST00000585203.6:n.864T=
NM_000018.3:c.1673T=	NP_000009.1:p.Ile558=
NM_001033859.2:c.1607T=	NP_001029031.1:p.Ile536=
NM_001270447.1:c.1742T=	NP_001257376.1:p.Ile581=
NM_001270448.1:c.1445T=	NP_001257377.1:p.Ile482=
XM_006721516.2:c.1673T=	XP_006721579.2:p.Ile558=
XM_011523829.1:c.1571T=	XP_011522131.1:p.Ile524=
XM_011523830.1:c.1571T=	XP_011522132.1:p.Ile524=
XR_934021.1:n.1776T=
XR_934022.1:n.1682T=
XR_934023.1:n.1682T=
XM_006721516.3:c.1673T=	XP_006721579.2:p.Ile558=
XM_011523829.2:c.1571T=	XP_011522131.1:p.Ile524=
XM_011523830.2:c.1571T=	XP_011522132.1:p.Ile524=
XM_024450741.1:c.1661T=	XP_024306509.1:p.Ile554=
XR_934021.2:n.1728T=
XR_934022.2:n.1634T=
XR_934023.2:n.1634T=
NM_000018.4:c.1673T= MANE Select	NP_000009.1:p.Ile558=
NM_001033859.3:c.1607T=	NP_001029031.1:p.Ile536=
NM_001270447.2:c.1742T=	NP_001257376.1:p.Ile581=
NM_001270448.2:c.1445T=	NP_001257377.1:p.Ile482=