Canonical Allele Identifier: CA397725754

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1972478
• ClinVar RCV Id: RCV002746230
• gnomAD v4: 17-7224695-A-G
• MyVariant Identifiers: chr17:g.7128014A>G (hg19) ; chr17:g.7224695A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224695A>G , CM000679.2:g.7224695A>G	GRCh38
NC_000017.10:g.7128014A>G , CM000679.1:g.7128014A>G	GRCh37
NC_000017.9:g.7068738A>G	NCBI36
NG_007975.1:g.9862A>G
NG_008391.2:g.356T>C
NG_033038.1:g.14850T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1732A>G MANE Select	ENSP00000349297.5:p.Met578Val
ENST00000322910.9:c.*1687A>G	ENSP00000325395.5:n.*1687A>G
ENST00000350303.9:c.1666A>G	ENSP00000344152.5:p.Met556Val
ENST00000356839.9:c.1732A>G	ENSP00000349297.5:p.Met578Val
ENST00000542255.6:c.537-20A>G
ENST00000543245.6:c.1801A>G	ENSP00000438689.2:p.Met601Val
ENST00000578033.1:n.63A>G
ENST00000578319.5:n.313A>G
ENST00000578711.1:n.1191A>G
ENST00000578809.5:n.304A>G
ENST00000579425.5:n.848A>G
ENST00000579546.1:c.467A>G
ENST00000583074.5:n.300-20A>G
ENST00000583848.5:c.98A>G	ENSP00000466487.1:p.His33Arg
ENST00000583850.5:n.503A>G
ENST00000583858.5:c.663A>G
ENST00000585203.6:n.923A>G
NM_000018.3:c.1732A>G	NP_000009.1:p.Met578Val
NM_001033859.2:c.1666A>G	NP_001029031.1:p.Met556Val
NM_001270447.1:c.1801A>G	NP_001257376.1:p.Met601Val
NM_001270448.1:c.1504A>G	NP_001257377.1:p.Met502Val
XM_006721516.2:c.1679-20A>G	XP_006721579.2:n.1679-20A>G
XM_011523829.1:c.1577-20A>G	XP_011522131.1:n.1577-20A>G
XM_011523830.1:c.1630A>G	XP_011522132.1:p.Met544Val
XR_934021.1:n.1835A>G
XR_934022.1:n.1741A>G
XR_934023.1:n.1688-20A>G
XM_006721516.3:c.1679-20A>G	XP_006721579.2:n.1679-20A>G
XM_011523829.2:c.1577-20A>G	XP_011522131.1:n.1577-20A>G
XM_011523830.2:c.1630A>G	XP_011522132.1:p.Met544Val
XM_024450741.1:c.1720A>G	XP_024306509.1:p.Met574Val
XR_934021.2:n.1787A>G
XR_934022.2:n.1693A>G
XR_934023.2:n.1640-20A>G
NM_000018.4:c.1732A>G MANE Select	NP_000009.1:p.Met578Val
NM_001033859.3:c.1666A>G	NP_001029031.1:p.Met556Val
NM_001270447.2:c.1801A>G	NP_001257376.1:p.Met601Val
NM_001270448.2:c.1504A>G	NP_001257377.1:p.Met502Val