Canonical Allele Identifier: CA2245698303

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220519C= , CM000679.2:g.7220519C=	GRCh38
NC_000017.10:g.7123838C= , CM000679.1:g.7123838C=	GRCh37
NC_000017.9:g.7064562C=	NCBI36
NG_007975.1:g.5686C=
NG_008391.2:g.4532G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.4:c.194C= MANE Select	NP_000009.1:p.Pro65=
ENST00000356839.10:c.194C= MANE Select	ENSP00000349297.5:p.Pro65=
NM_000018.3:c.194C=	NP_000009.1:p.Pro65=
NM_001033859.2:c.139-85C=	NP_001029031.1:n.139-85C=
NM_001033859.3:c.139-85C=	NP_001029031.1:n.139-85C=
NM_001270447.1:c.263C=	NP_001257376.1:p.Pro88=
NM_001270447.2:c.263C=	NP_001257376.1:p.Pro88=
NM_001270448.1:c.-35C=	NP_001257377.1:n.-35C=
NM_001270448.2:c.-35C=	NP_001257377.1:n.-35C=
ENST00000322910.9:c.*149C=	ENSP00000325395.5:n.*149C=
ENST00000350303.9:c.139-85C=	ENSP00000344152.5:n.139-85C=
ENST00000356839.9:c.194C=	ENSP00000349297.5:p.Pro65=
ENST00000543245.6:c.263C=	ENSP00000438689.2:p.Pro88=
ENST00000577191.5:n.271C=
ENST00000577433.5:n.328C=
ENST00000577857.5:n.229-247C=
ENST00000578269.5:n.567C=
ENST00000578421.1:n.328C=
ENST00000579286.5:n.301C=
ENST00000579886.2:c.194C=	ENSP00000463246.1:p.Pro65=
ENST00000580263.5:n.284C=
ENST00000581562.5:n.241C=
ENST00000582056.5:n.284C=
ENST00000582166.1:n.82C=
ENST00000582356.5:n.319C=
ENST00000583312.5:c.194C=	ENSP00000467920.1:p.Pro65=
ENST00000584103.5:c.194C=	ENSP00000465353.1:p.Pro65=
XM_006721516.2:c.194C=	XP_006721579.2:p.Pro65=
XM_006721516.3:c.194C=	XP_006721579.2:p.Pro65=
XM_011523829.1:c.194C=	XP_011522131.1:p.Pro65=
XM_011523829.2:c.194C=	XP_011522131.1:p.Pro65=
XM_011523830.1:c.194C=	XP_011522132.1:p.Pro65=
XM_011523830.2:c.194C=	XP_011522132.1:p.Pro65=
XM_024450741.1:c.194C=	XP_024306509.1:p.Pro65=
XR_934021.1:n.301C=
XR_934021.2:n.253C=
XR_934022.1:n.301C=
XR_934022.2:n.253C=
XR_934023.1:n.301C=
XR_934023.2:n.253C=