Canonical Allele Identifier: CA397725942

Gene: ACADVL

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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