Canonical Allele Identifier: CA2245716209

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225002C= , CM000679.2:g.7225002C=	GRCh38
NC_000017.10:g.7128321C= , CM000679.1:g.7128321C=	GRCh37
NC_000017.9:g.7069045C=	NCBI36
NG_007975.1:g.10169C=
NG_008391.2:g.49G=
NG_033038.1:g.14543G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1873C= MANE Select	ENSP00000349297.5:p.Pro625=
ENST00000322910.9:c.*1828C=	ENSP00000325395.5:n.*1828C=
ENST00000350303.9:c.1807C=	ENSP00000344152.5:p.Pro603=
ENST00000356839.9:c.1873C=	ENSP00000349297.5:p.Pro625=
ENST00000542255.6:c.752C=
ENST00000543245.6:c.1942C=	ENSP00000438689.2:p.Pro648=
ENST00000578033.1:n.298C=
ENST00000578319.5:n.454C=
ENST00000578711.1:n.1498C=
ENST00000578809.5:n.445C=
ENST00000579425.5:n.989C=
ENST00000583848.5:c.239C=	ENSP00000466487.1:n.239C=
ENST00000583850.5:n.644C=
ENST00000583858.5:c.804C=
NM_000018.3:c.1873C=	NP_000009.1:p.Pro625=
NM_001033859.2:c.1807C=	NP_001029031.1:p.Pro603=
NM_001270447.1:c.1942C=	NP_001257376.1:p.Pro648=
NM_001270448.1:c.1645C=	NP_001257377.1:p.Pro549=
XM_006721516.2:c.1894C=	XP_006721579.2:p.Pro632=
XM_011523829.1:c.1792C=	XP_011522131.1:p.Pro598=
XM_011523830.1:c.1771C=	XP_011522132.1:p.Pro591=
XR_934021.1:n.1976C=
XR_934022.1:n.1882C=
XR_934023.1:n.1903C=
XM_006721516.3:c.1894C=	XP_006721579.2:p.Pro632=
XM_011523829.2:c.1792C=	XP_011522131.1:p.Pro598=
XM_011523830.2:c.1771C=	XP_011522132.1:p.Pro591=
XM_024450741.1:c.1861C=	XP_024306509.1:p.Pro621=
XR_934021.2:n.1928C=
XR_934022.2:n.1834C=
XR_934023.2:n.1855C=
NM_000018.4:c.1873C= MANE Select	NP_000009.1:p.Pro625=
NM_001033859.3:c.1807C=	NP_001029031.1:p.Pro603=
NM_001270447.2:c.1942C=	NP_001257376.1:p.Pro648=
NM_001270448.2:c.1645C=	NP_001257377.1:p.Pro549=