Canonical Allele Identifier: CA397725941

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128188C>A (hg19) ; chr17:g.7224869C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224869C>A , CM000679.2:g.7224869C>A	GRCh38
NC_000017.10:g.7128188C>A , CM000679.1:g.7128188C>A	GRCh37
NC_000017.9:g.7068912C>A	NCBI36
NG_007975.1:g.10036C>A
NG_008391.2:g.182G>T
NG_033038.1:g.14676G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1812C>A MANE Select	ENSP00000349297.5:p.Asp604Glu
ENST00000322910.9:c.*1767C>A	ENSP00000325395.5:n.*1767C>A
ENST00000350303.9:c.1746C>A	ENSP00000344152.5:p.Asp582Glu
ENST00000356839.9:c.1812C>A	ENSP00000349297.5:p.Asp604Glu
ENST00000542255.6:c.691C>A
ENST00000543245.6:c.1881C>A	ENSP00000438689.2:p.Asp627Glu
ENST00000578033.1:n.237C>A
ENST00000578319.5:n.393C>A
ENST00000578711.1:n.1365C>A
ENST00000578809.5:n.384C>A
ENST00000579425.5:n.928C>A
ENST00000579546.1:c.547C>A
ENST00000583848.5:c.178C>A	ENSP00000466487.1:n.178C>A
ENST00000583850.5:n.583C>A
ENST00000583858.5:c.743C>A
NM_000018.3:c.1812C>A	NP_000009.1:p.Asp604Glu
NM_001033859.2:c.1746C>A	NP_001029031.1:p.Asp582Glu
NM_001270447.1:c.1881C>A	NP_001257376.1:p.Asp627Glu
NM_001270448.1:c.1584C>A	NP_001257377.1:p.Asp528Glu
XM_006721516.2:c.1833C>A	XP_006721579.2:p.Asp611Glu
XM_011523829.1:c.1731C>A	XP_011522131.1:p.Asp577Glu
XM_011523830.1:c.1710C>A	XP_011522132.1:p.Asp570Glu
XR_934021.1:n.1915C>A
XR_934022.1:n.1821C>A
XR_934023.1:n.1842C>A
XM_006721516.3:c.1833C>A	XP_006721579.2:p.Asp611Glu
XM_011523829.2:c.1731C>A	XP_011522131.1:p.Asp577Glu
XM_011523830.2:c.1710C>A	XP_011522132.1:p.Asp570Glu
XM_024450741.1:c.1800C>A	XP_024306509.1:p.Asp600Glu
XR_934021.2:n.1867C>A
XR_934022.2:n.1773C>A
XR_934023.2:n.1794C>A
NM_000018.4:c.1812C>A MANE Select	NP_000009.1:p.Asp604Glu
NM_001033859.3:c.1746C>A	NP_001029031.1:p.Asp582Glu
NM_001270447.2:c.1881C>A	NP_001257376.1:p.Asp627Glu
NM_001270448.2:c.1584C>A	NP_001257377.1:p.Asp528Glu