Canonical Allele Identifier: CA2245699027

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220803G= , CM000679.2:g.7220803G=	GRCh38
NC_000017.10:g.7124122G= , CM000679.1:g.7124122G=	GRCh37
NC_000017.9:g.7064846G=	NCBI36
NG_007975.1:g.5970G=
NG_008391.2:g.4248C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.315G= MANE Select	ENSP00000349297.5:p.Leu105=
ENST00000322910.9:c.*270G=	ENSP00000325395.5:n.*270G=
ENST00000350303.9:c.249G=	ENSP00000344152.5:p.Leu83=
ENST00000356839.9:c.315G=	ENSP00000349297.5:p.Leu105=
ENST00000543245.6:c.384G=	ENSP00000438689.2:p.Leu128=
ENST00000577191.5:n.392G=
ENST00000577433.5:n.523G=
ENST00000577857.5:n.266G=
ENST00000579286.5:n.496G=
ENST00000579886.2:c.202-142G=	ENSP00000463246.1:n.202-142G=
ENST00000580365.1:n.46G=
ENST00000581378.5:c.14G=
ENST00000581562.5:n.362G=
ENST00000582056.5:n.405G=
ENST00000582166.1:n.203G=
ENST00000582356.5:n.514G=
ENST00000583312.5:c.315G=	ENSP00000467920.1:p.Leu105=
ENST00000584103.5:c.315G=	ENSP00000465353.1:p.Leu105=
NM_000018.3:c.315G=	NP_000009.1:p.Leu105=
NM_001033859.2:c.249G=	NP_001029031.1:p.Leu83=
NM_001270447.1:c.384G=	NP_001257376.1:p.Leu128=
NM_001270448.1:c.87G=	NP_001257377.1:p.Leu29=
XM_006721516.2:c.315G=	XP_006721579.2:p.Leu105=
XM_011523829.1:c.315G=	XP_011522131.1:p.Leu105=
XM_011523830.1:c.315G=	XP_011522132.1:p.Leu105=
XR_934021.1:n.422G=
XR_934022.1:n.422G=
XR_934023.1:n.422G=
XM_006721516.3:c.315G=	XP_006721579.2:p.Leu105=
XM_011523829.2:c.315G=	XP_011522131.1:p.Leu105=
XM_011523830.2:c.315G=	XP_011522132.1:p.Leu105=
XM_024450741.1:c.315G=	XP_024306509.1:p.Leu105=
XR_934021.2:n.374G=
XR_934022.2:n.374G=
XR_934023.2:n.374G=
NM_000018.4:c.315G= MANE Select	NP_000009.1:p.Leu105=
NM_001033859.3:c.249G=	NP_001029031.1:p.Leu83=
NM_001270447.2:c.384G=	NP_001257376.1:p.Leu128=
NM_001270448.2:c.87G=	NP_001257377.1:p.Leu29=