Canonical Allele Identifier: CA2245713914

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224368C= , CM000679.2:g.7224368C=	GRCh38
NC_000017.10:g.7127687C= , CM000679.1:g.7127687C=	GRCh37
NC_000017.9:g.7068411C=	NCBI36
NG_007975.1:g.9535C=
NG_008391.2:g.683G=
NG_033038.1:g.15177G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1580C= MANE Select	ENSP00000349297.5:p.Pro527=
ENST00000322910.9:c.*1535C=	ENSP00000325395.5:n.*1535C=
ENST00000350303.9:c.1514C=	ENSP00000344152.5:p.Pro505=
ENST00000356839.9:c.1580C=	ENSP00000349297.5:p.Pro527=
ENST00000542255.6:c.438C=
ENST00000543245.6:c.1649C=	ENSP00000438689.2:p.Pro550=
ENST00000578319.5:n.75C=
ENST00000578711.1:n.864C=
ENST00000578809.5:n.152C=
ENST00000579391.1:n.188C=
ENST00000579425.5:n.696C=
ENST00000579546.1:c.319C=
ENST00000579894.5:n.367C=
ENST00000582450.1:n.88C=
ENST00000583074.5:n.201C=
ENST00000583850.5:n.355C=
ENST00000583858.5:c.511C=
ENST00000585203.6:n.771C=
NM_000018.3:c.1580C=	NP_000009.1:p.Pro527=
NM_001033859.2:c.1514C=	NP_001029031.1:p.Pro505=
NM_001270447.1:c.1649C=	NP_001257376.1:p.Pro550=
NM_001270448.1:c.1352C=	NP_001257377.1:p.Pro451=
XM_006721516.2:c.1580C=	XP_006721579.2:p.Pro527=
XM_011523829.1:c.1482C=	XP_011522131.1:p.Pro494=
XM_011523830.1:c.1482C=	XP_011522132.1:p.Pro494=
XR_934021.1:n.1687C=
XR_934022.1:n.1589C=
XR_934023.1:n.1589C=
XM_006721516.3:c.1580C=	XP_006721579.2:p.Pro527=
XM_011523829.2:c.1482C=	XP_011522131.1:p.Pro494=
XM_011523830.2:c.1482C=	XP_011522132.1:p.Pro494=
XM_024450741.1:c.1482C=	XP_024306509.1:p.Pro494=
XR_934021.2:n.1639C=
XR_934022.2:n.1541C=
XR_934023.2:n.1541C=
NM_000018.4:c.1580C= MANE Select	NP_000009.1:p.Pro527=
NM_001033859.3:c.1514C=	NP_001029031.1:p.Pro505=
NM_001270447.2:c.1649C=	NP_001257376.1:p.Pro550=
NM_001270448.2:c.1352C=	NP_001257377.1:p.Pro451=