Canonical Allele Identifier: CA397725708

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1372824
• ClinVar RCV Id: RCV001874859
• dbSNP Id: rs759638134
• gnomAD v4: 17-7224673-C-A
• MyVariant Identifiers: chr17:g.7127992C>A (hg19) ; chr17:g.7224673C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224673C>A , CM000679.2:g.7224673C>A	GRCh38
NC_000017.10:g.7127992C>A , CM000679.1:g.7127992C>A	GRCh37
NC_000017.9:g.7068716C>A	NCBI36
NG_007975.1:g.9840C>A
NG_008391.2:g.378G>T
NG_033038.1:g.14872G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1710C>A MANE Select	ENSP00000349297.5:p.Asp570Glu
ENST00000322910.9:c.*1665C>A	ENSP00000325395.5:n.*1665C>A
ENST00000350303.9:c.1644C>A	ENSP00000344152.5:p.Asp548Glu
ENST00000356839.9:c.1710C>A	ENSP00000349297.5:p.Asp570Glu
ENST00000542255.6:c.537-42C>A
ENST00000543245.6:c.1779C>A	ENSP00000438689.2:p.Asp593Glu
ENST00000578033.1:n.41C>A
ENST00000578319.5:n.291C>A
ENST00000578711.1:n.1169C>A
ENST00000578809.5:n.282C>A
ENST00000579425.5:n.826C>A
ENST00000579546.1:c.445C>A
ENST00000583074.5:n.300-42C>A
ENST00000583848.5:c.76C>A	ENSP00000466487.1:p.Arg26=
ENST00000583850.5:n.481C>A
ENST00000583858.5:c.641C>A
ENST00000585203.6:n.901C>A
NM_000018.3:c.1710C>A	NP_000009.1:p.Asp570Glu
NM_001033859.2:c.1644C>A	NP_001029031.1:p.Asp548Glu
NM_001270447.1:c.1779C>A	NP_001257376.1:p.Asp593Glu
NM_001270448.1:c.1482C>A	NP_001257377.1:p.Asp494Glu
XM_006721516.2:c.1679-42C>A	XP_006721579.2:n.1679-42C>A
XM_011523829.1:c.1577-42C>A	XP_011522131.1:n.1577-42C>A
XM_011523830.1:c.1608C>A	XP_011522132.1:p.Asp536Glu
XR_934021.1:n.1813C>A
XR_934022.1:n.1719C>A
XR_934023.1:n.1688-42C>A
XM_006721516.3:c.1679-42C>A	XP_006721579.2:n.1679-42C>A
XM_011523829.2:c.1577-42C>A	XP_011522131.1:n.1577-42C>A
XM_011523830.2:c.1608C>A	XP_011522132.1:p.Asp536Glu
XM_024450741.1:c.1698C>A	XP_024306509.1:p.Asp566Glu
XR_934021.2:n.1765C>A
XR_934022.2:n.1671C>A
XR_934023.2:n.1640-42C>A
NM_000018.4:c.1710C>A MANE Select	NP_000009.1:p.Asp570Glu
NM_001033859.3:c.1644C>A	NP_001029031.1:p.Asp548Glu
NM_001270447.2:c.1779C>A	NP_001257376.1:p.Asp593Glu
NM_001270448.2:c.1482C>A	NP_001257377.1:p.Asp494Glu