Canonical Allele Identifier: CA2245714582

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224536C= , CM000679.2:g.7224536C=	GRCh38
NC_000017.10:g.7127855C= , CM000679.1:g.7127855C=	GRCh37
NC_000017.9:g.7068579C=	NCBI36
NG_007975.1:g.9703C=
NG_008391.2:g.515G=
NG_033038.1:g.15009G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1662C= MANE Select	ENSP00000349297.5:p.His554=
ENST00000322910.9:c.*1617C=	ENSP00000325395.5:n.*1617C=
ENST00000350303.9:c.1596C=	ENSP00000344152.5:p.His532=
ENST00000356839.9:c.1662C=	ENSP00000349297.5:p.His554=
ENST00000542255.6:c.520C=
ENST00000543245.6:c.1731C=	ENSP00000438689.2:p.His577=
ENST00000578319.5:n.243C=
ENST00000578711.1:n.1032C=
ENST00000578809.5:n.234C=
ENST00000579391.1:n.266C=
ENST00000579425.5:n.778C=
ENST00000579546.1:c.397C=
ENST00000582450.1:n.170C=
ENST00000583074.5:n.283C=
ENST00000583848.5:c.48C=	ENSP00000466487.1:p.His16=
ENST00000583850.5:n.433C=
ENST00000583858.5:c.593C=
ENST00000585203.6:n.853C=
NM_000018.3:c.1662C=	NP_000009.1:p.His554=
NM_001033859.2:c.1596C=	NP_001029031.1:p.His532=
NM_001270447.1:c.1731C=	NP_001257376.1:p.His577=
NM_001270448.1:c.1434C=	NP_001257377.1:p.His478=
XM_006721516.2:c.1662C=	XP_006721579.2:p.His554=
XM_011523829.1:c.1560C=	XP_011522131.1:p.His520=
XM_011523830.1:c.1560C=	XP_011522132.1:p.His520=
XR_934021.1:n.1765C=
XR_934022.1:n.1671C=
XR_934023.1:n.1671C=
XM_006721516.3:c.1662C=	XP_006721579.2:p.His554=
XM_011523829.2:c.1560C=	XP_011522131.1:p.His520=
XM_011523830.2:c.1560C=	XP_011522132.1:p.His520=
XM_024450741.1:c.1650C=	XP_024306509.1:p.His550=
XR_934021.2:n.1717C=
XR_934022.2:n.1623C=
XR_934023.2:n.1623C=
NM_000018.4:c.1662C= MANE Select	NP_000009.1:p.His554=
NM_001033859.3:c.1596C=	NP_001029031.1:p.His532=
NM_001270447.2:c.1731C=	NP_001257376.1:p.His577=
NM_001270448.2:c.1434C=	NP_001257377.1:p.His478=