Canonical Allele Identifier: CA397725734

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128005C>G (hg19) ; chr17:g.7224686C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224686C>G , CM000679.2:g.7224686C>G	GRCh38
NC_000017.10:g.7128005C>G , CM000679.1:g.7128005C>G	GRCh37
NC_000017.9:g.7068729C>G	NCBI36
NG_007975.1:g.9853C>G
NG_008391.2:g.365G>C
NG_033038.1:g.14859G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1723C>G MANE Select	ENSP00000349297.5:p.Leu575Val
ENST00000322910.9:c.*1678C>G	ENSP00000325395.5:n.*1678C>G
ENST00000350303.9:c.1657C>G	ENSP00000344152.5:p.Leu553Val
ENST00000356839.9:c.1723C>G	ENSP00000349297.5:p.Leu575Val
ENST00000542255.6:c.537-29C>G
ENST00000543245.6:c.1792C>G	ENSP00000438689.2:p.Leu598Val
ENST00000578033.1:n.54C>G
ENST00000578319.5:n.304C>G
ENST00000578711.1:n.1182C>G
ENST00000578809.5:n.295C>G
ENST00000579425.5:n.839C>G
ENST00000579546.1:c.458C>G
ENST00000583074.5:n.300-29C>G
ENST00000583848.5:c.89C>G	ENSP00000466487.1:p.Pro30Arg
ENST00000583850.5:n.494C>G
ENST00000583858.5:c.654C>G
ENST00000585203.6:n.914C>G
NM_000018.3:c.1723C>G	NP_000009.1:p.Leu575Val
NM_001033859.2:c.1657C>G	NP_001029031.1:p.Leu553Val
NM_001270447.1:c.1792C>G	NP_001257376.1:p.Leu598Val
NM_001270448.1:c.1495C>G	NP_001257377.1:p.Leu499Val
XM_006721516.2:c.1679-29C>G	XP_006721579.2:n.1679-29C>G
XM_011523829.1:c.1577-29C>G	XP_011522131.1:n.1577-29C>G
XM_011523830.1:c.1621C>G	XP_011522132.1:p.Leu541Val
XR_934021.1:n.1826C>G
XR_934022.1:n.1732C>G
XR_934023.1:n.1688-29C>G
XM_006721516.3:c.1679-29C>G	XP_006721579.2:n.1679-29C>G
XM_011523829.2:c.1577-29C>G	XP_011522131.1:n.1577-29C>G
XM_011523830.2:c.1621C>G	XP_011522132.1:p.Leu541Val
XM_024450741.1:c.1711C>G	XP_024306509.1:p.Leu571Val
XR_934021.2:n.1778C>G
XR_934022.2:n.1684C>G
XR_934023.2:n.1640-29C>G
NM_000018.4:c.1723C>G MANE Select	NP_000009.1:p.Leu575Val
NM_001033859.3:c.1657C>G	NP_001029031.1:p.Leu553Val
NM_001270447.2:c.1792C>G	NP_001257376.1:p.Leu598Val
NM_001270448.2:c.1495C>G	NP_001257377.1:p.Leu499Val