Canonical Allele Identifier: CA2245698600

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220642G= , CM000679.2:g.7220642G=	GRCh38
NC_000017.10:g.7123961G= , CM000679.1:g.7123961G=	GRCh37
NC_000017.9:g.7064685G=	NCBI36
NG_007975.1:g.5809G=
NG_008391.2:g.4409C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.243G= MANE Select	ENSP00000349297.5:p.Gln81=
ENST00000322910.9:c.*198G=	ENSP00000325395.5:n.*198G=
ENST00000350303.9:c.177G=	ENSP00000344152.5:p.Gln59=
ENST00000356839.9:c.243G=	ENSP00000349297.5:p.Gln81=
ENST00000543245.6:c.312G=	ENSP00000438689.2:p.Gln104=
ENST00000577191.5:n.320G=
ENST00000577433.5:n.451G=
ENST00000577857.5:n.229-124G=
ENST00000578269.5:n.690G=
ENST00000578421.1:n.451G=
ENST00000579286.5:n.424G=
ENST00000579886.2:c.201+116G=	ENSP00000463246.1:n.201+116G=
ENST00000580263.5:n.407G=
ENST00000581562.5:n.290G=
ENST00000582056.5:n.333G=
ENST00000582166.1:n.131G=
ENST00000582356.5:n.442G=
ENST00000583312.5:c.243G=	ENSP00000467920.1:p.Gln81=
ENST00000584103.5:c.243G=	ENSP00000465353.1:p.Gln81=
NM_000018.3:c.243G=	NP_000009.1:p.Gln81=
NM_001033859.2:c.177G=	NP_001029031.1:p.Gln59=
NM_001270447.1:c.312G=	NP_001257376.1:p.Gln104=
NM_001270448.1:c.15G=	NP_001257377.1:p.Gln5=
XM_006721516.2:c.243G=	XP_006721579.2:p.Gln81=
XM_011523829.1:c.243G=	XP_011522131.1:p.Gln81=
XM_011523830.1:c.243G=	XP_011522132.1:p.Gln81=
XR_934021.1:n.350G=
XR_934022.1:n.350G=
XR_934023.1:n.350G=
XM_006721516.3:c.243G=	XP_006721579.2:p.Gln81=
XM_011523829.2:c.243G=	XP_011522131.1:p.Gln81=
XM_011523830.2:c.243G=	XP_011522132.1:p.Gln81=
XM_024450741.1:c.243G=	XP_024306509.1:p.Gln81=
XR_934021.2:n.302G=
XR_934022.2:n.302G=
XR_934023.2:n.302G=
NM_000018.4:c.243G= MANE Select	NP_000009.1:p.Gln81=
NM_001033859.3:c.177G=	NP_001029031.1:p.Gln59=
NM_001270447.2:c.312G=	NP_001257376.1:p.Gln104=
NM_001270448.2:c.15G=	NP_001257377.1:p.Gln5=