Canonical Allele Identifier: CA397722801

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7220970-A-G
• MyVariant Identifiers: chr17:g.7124289A>G (hg19) ; chr17:g.7220970A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220970A>G , CM000679.2:g.7220970A>G	GRCh38
NC_000017.10:g.7124289A>G , CM000679.1:g.7124289A>G	GRCh37
NC_000017.9:g.7065013A>G	NCBI36
NG_007975.1:g.6137A>G
NG_008391.2:g.4081T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.389A>G MANE Select	ENSP00000349297.5:p.Glu130Gly
ENST00000322910.9:c.*344A>G	ENSP00000325395.5:n.*344A>G
ENST00000350303.9:c.323A>G	ENSP00000344152.5:p.Glu108Gly
ENST00000356839.9:c.389A>G	ENSP00000349297.5:p.Glu130Gly
ENST00000543245.6:c.458A>G	ENSP00000438689.2:p.Glu153Gly
ENST00000577191.5:n.466A>G
ENST00000577433.5:n.597A>G
ENST00000577857.5:n.293+140A>G
ENST00000579286.5:n.570A>G
ENST00000579886.2:c.227A>G	ENSP00000463246.1:p.Glu76Gly
ENST00000580365.1:n.120A>G
ENST00000581378.5:c.88A>G
ENST00000581562.5:n.436A>G
ENST00000582056.5:n.572A>G
ENST00000582166.1:n.370A>G
ENST00000583312.5:c.389A>G	ENSP00000467920.1:p.Glu130Gly
ENST00000584103.5:c.422A>G	ENSP00000465353.1:p.Glu141Gly
NM_000018.3:c.389A>G	NP_000009.1:p.Glu130Gly
NM_001033859.2:c.323A>G	NP_001029031.1:p.Glu108Gly
NM_001270447.1:c.458A>G	NP_001257376.1:p.Glu153Gly
NM_001270448.1:c.161A>G	NP_001257377.1:p.Glu54Gly
XM_006721516.2:c.389A>G	XP_006721579.2:p.Glu130Gly
XM_011523829.1:c.389A>G	XP_011522131.1:p.Glu130Gly
XM_011523830.1:c.389A>G	XP_011522132.1:p.Glu130Gly
XR_934021.1:n.496A>G
XR_934022.1:n.496A>G
XR_934023.1:n.496A>G
XM_006721516.3:c.389A>G	XP_006721579.2:p.Glu130Gly
XM_011523829.2:c.389A>G	XP_011522131.1:p.Glu130Gly
XM_011523830.2:c.389A>G	XP_011522132.1:p.Glu130Gly
XM_024450741.1:c.389A>G	XP_024306509.1:p.Glu130Gly
XR_934021.2:n.448A>G
XR_934022.2:n.448A>G
XR_934023.2:n.448A>G
NM_000018.4:c.389A>G MANE Select	NP_000009.1:p.Glu130Gly
NM_001033859.3:c.323A>G	NP_001029031.1:p.Glu108Gly
NM_001270447.2:c.458A>G	NP_001257376.1:p.Glu153Gly
NM_001270448.2:c.161A>G	NP_001257377.1:p.Glu54Gly