Canonical Allele Identifier: CA397723399

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125302G>C (hg19) ; chr17:g.7221983G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221983G>C , CM000679.2:g.7221983G>C	GRCh38
NC_000017.10:g.7125302G>C , CM000679.1:g.7125302G>C	GRCh37
NC_000017.9:g.7066026G>C	NCBI36
NG_007975.1:g.7150G>C
NG_008391.2:g.3068C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.654G>C MANE Select	ENSP00000349297.5:p.Glu218Asp
ENST00000322910.9:c.*609G>C	ENSP00000325395.5:n.*609G>C
ENST00000350303.9:c.588G>C	ENSP00000344152.5:p.Glu196Asp
ENST00000356839.9:c.654G>C	ENSP00000349297.5:p.Glu218Asp
ENST00000543245.6:c.723G>C	ENSP00000438689.2:p.Glu241Asp
ENST00000577191.5:n.731G>C
ENST00000577857.5:n.470G>C
ENST00000579286.5:n.835G>C
ENST00000580365.1:n.385G>C
ENST00000581378.5:c.372G>C
ENST00000581562.5:n.556G>C
ENST00000582379.1:n.38G>C
ENST00000583312.5:c.669G>C	ENSP00000467920.1:p.Glu223Asp
ENST00000583760.1:n.436G>C
NM_000018.3:c.654G>C	NP_000009.1:p.Glu218Asp
NM_001033859.2:c.588G>C	NP_001029031.1:p.Glu196Asp
NM_001270447.1:c.723G>C	NP_001257376.1:p.Glu241Asp
NM_001270448.1:c.426G>C	NP_001257377.1:p.Glu142Asp
XM_006721516.2:c.654G>C	XP_006721579.2:p.Glu218Asp
XM_011523829.1:c.654G>C	XP_011522131.1:p.Glu218Asp
XM_011523830.1:c.654G>C	XP_011522132.1:p.Glu218Asp
XR_934021.1:n.761G>C
XR_934022.1:n.761G>C
XR_934023.1:n.761G>C
XM_006721516.3:c.654G>C	XP_006721579.2:p.Glu218Asp
XM_011523829.2:c.654G>C	XP_011522131.1:p.Glu218Asp
XM_011523830.2:c.654G>C	XP_011522132.1:p.Glu218Asp
XM_024450741.1:c.654G>C	XP_024306509.1:p.Glu218Asp
XR_934021.2:n.713G>C
XR_934022.2:n.713G>C
XR_934023.2:n.713G>C
NM_000018.4:c.654G>C MANE Select	NP_000009.1:p.Glu218Asp
NM_001033859.3:c.588G>C	NP_001029031.1:p.Glu196Asp
NM_001270447.2:c.723G>C	NP_001257376.1:p.Glu241Asp
NM_001270448.2:c.426G>C	NP_001257377.1:p.Glu142Asp