Canonical Allele Identifier: CA397725780

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128026C>G (hg19) ; chr17:g.7224707C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224707C>G , CM000679.2:g.7224707C>G	GRCh38
NC_000017.10:g.7128026C>G , CM000679.1:g.7128026C>G	GRCh37
NC_000017.9:g.7068750C>G	NCBI36
NG_007975.1:g.9874C>G
NG_008391.2:g.344G>C
NG_033038.1:g.14838G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1744C>G MANE Select	ENSP00000349297.5:p.Leu582Val
ENST00000322910.9:c.*1699C>G	ENSP00000325395.5:n.*1699C>G
ENST00000350303.9:c.1678C>G	ENSP00000344152.5:p.Leu560Val
ENST00000356839.9:c.1744C>G	ENSP00000349297.5:p.Leu582Val
ENST00000542255.6:c.537-8C>G
ENST00000543245.6:c.1813C>G	ENSP00000438689.2:p.Leu605Val
ENST00000578033.1:n.75C>G
ENST00000578319.5:n.325C>G
ENST00000578711.1:n.1203C>G
ENST00000578809.5:n.316C>G
ENST00000579425.5:n.860C>G
ENST00000579546.1:c.479C>G
ENST00000583074.5:n.300-8C>G
ENST00000583848.5:c.110C>G	ENSP00000466487.1:p.Ser37Cys
ENST00000583850.5:n.515C>G
ENST00000583858.5:c.675C>G
ENST00000585203.6:n.935C>G
NM_000018.3:c.1744C>G	NP_000009.1:p.Leu582Val
NM_001033859.2:c.1678C>G	NP_001029031.1:p.Leu560Val
NM_001270447.1:c.1813C>G	NP_001257376.1:p.Leu605Val
NM_001270448.1:c.1516C>G	NP_001257377.1:p.Leu506Val
XM_006721516.2:c.1679-8C>G	XP_006721579.2:n.1679-8C>G
XM_011523829.1:c.1577-8C>G	XP_011522131.1:n.1577-8C>G
XM_011523830.1:c.1642C>G	XP_011522132.1:p.Leu548Val
XR_934021.1:n.1847C>G
XR_934022.1:n.1753C>G
XR_934023.1:n.1688-8C>G
XM_006721516.3:c.1679-8C>G	XP_006721579.2:n.1679-8C>G
XM_011523829.2:c.1577-8C>G	XP_011522131.1:n.1577-8C>G
XM_011523830.2:c.1642C>G	XP_011522132.1:p.Leu548Val
XM_024450741.1:c.1732C>G	XP_024306509.1:p.Leu578Val
XR_934021.2:n.1799C>G
XR_934022.2:n.1705C>G
XR_934023.2:n.1640-8C>G
NM_000018.4:c.1744C>G MANE Select	NP_000009.1:p.Leu582Val
NM_001033859.3:c.1678C>G	NP_001029031.1:p.Leu560Val
NM_001270447.2:c.1813C>G	NP_001257376.1:p.Leu605Val
NM_001270448.2:c.1516C>G	NP_001257377.1:p.Leu506Val