Canonical Allele Identifier: CA397725790

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 426482
• ClinVar RCV Id: RCV000489971 ; RCV000675075 ; RCV003409673
• dbSNP Id: rs1085307648
• gnomAD v2: 17-7128030-C-G
• gnomAD v4: 17-7224711-C-G
• MyVariant Identifiers: chr17:g.7128030C>G (hg19) ; chr17:g.7224711C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224711C>G , CM000679.2:g.7224711C>G	GRCh38
NC_000017.10:g.7128030C>G , CM000679.1:g.7128030C>G	GRCh37
NC_000017.9:g.7068754C>G	NCBI36
NG_007975.1:g.9878C>G
NG_008391.2:g.340G>C
NG_033038.1:g.14834G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1748C>G MANE Select	ENSP00000349297.5:p.Ser583Trp
ENST00000322910.9:c.*1703C>G	ENSP00000325395.5:n.*1703C>G
ENST00000350303.9:c.1682C>G	ENSP00000344152.5:p.Ser561Trp
ENST00000356839.9:c.1748C>G	ENSP00000349297.5:p.Ser583Trp
ENST00000542255.6:c.537-4C>G
ENST00000543245.6:c.1817C>G	ENSP00000438689.2:p.Ser606Trp
ENST00000578033.1:n.79C>G
ENST00000578319.5:n.329C>G
ENST00000578711.1:n.1207C>G
ENST00000578809.5:n.320C>G
ENST00000579425.5:n.864C>G
ENST00000579546.1:c.483C>G
ENST00000583074.5:n.300-4C>G
ENST00000583848.5:c.114C>G	ENSP00000466487.1:p.Leu38=
ENST00000583850.5:n.519C>G
ENST00000583858.5:c.679C>G
ENST00000585203.6:n.939C>G
NM_000018.3:c.1748C>G	NP_000009.1:p.Ser583Trp
NM_001033859.2:c.1682C>G	NP_001029031.1:p.Ser561Trp
NM_001270447.1:c.1817C>G	NP_001257376.1:p.Ser606Trp
NM_001270448.1:c.1520C>G	NP_001257377.1:p.Ser507Trp
XM_006721516.2:c.1679-4C>G	XP_006721579.2:n.1679-4C>G
XM_011523829.1:c.1577-4C>G	XP_011522131.1:n.1577-4C>G
XM_011523830.1:c.1646C>G	XP_011522132.1:p.Ser549Trp
XR_934021.1:n.1851C>G
XR_934022.1:n.1757C>G
XR_934023.1:n.1688-4C>G
XM_006721516.3:c.1679-4C>G	XP_006721579.2:n.1679-4C>G
XM_011523829.2:c.1577-4C>G	XP_011522131.1:n.1577-4C>G
XM_011523830.2:c.1646C>G	XP_011522132.1:p.Ser549Trp
XM_024450741.1:c.1736C>G	XP_024306509.1:p.Ser579Trp
XR_934021.2:n.1803C>G
XR_934022.2:n.1709C>G
XR_934023.2:n.1640-4C>G
NM_000018.4:c.1748C>G MANE Select	NP_000009.1:p.Ser583Trp
NM_001033859.3:c.1682C>G	NP_001029031.1:p.Ser561Trp
NM_001270447.2:c.1817C>G	NP_001257376.1:p.Ser606Trp
NM_001270448.2:c.1520C>G	NP_001257377.1:p.Ser507Trp