Canonical Allele Identifier: CA397725921

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128180C>A (hg19) ; chr17:g.7224861C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224861C>A , CM000679.2:g.7224861C>A	GRCh38
NC_000017.10:g.7128180C>A , CM000679.1:g.7128180C>A	GRCh37
NC_000017.9:g.7068904C>A	NCBI36
NG_007975.1:g.10028C>A
NG_008391.2:g.190G>T
NG_033038.1:g.14684G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1804C>A MANE Select	ENSP00000349297.5:p.Leu602Ile
ENST00000322910.9:c.*1759C>A	ENSP00000325395.5:n.*1759C>A
ENST00000350303.9:c.1738C>A	ENSP00000344152.5:p.Leu580Ile
ENST00000356839.9:c.1804C>A	ENSP00000349297.5:p.Leu602Ile
ENST00000542255.6:c.683C>A
ENST00000543245.6:c.1873C>A	ENSP00000438689.2:p.Leu625Ile
ENST00000578033.1:n.229C>A
ENST00000578319.5:n.385C>A
ENST00000578711.1:n.1357C>A
ENST00000578809.5:n.376C>A
ENST00000579425.5:n.920C>A
ENST00000579546.1:c.539C>A
ENST00000583848.5:c.170C>A	ENSP00000466487.1:n.170C>A
ENST00000583850.5:n.575C>A
ENST00000583858.5:c.735C>A
NM_000018.3:c.1804C>A	NP_000009.1:p.Leu602Ile
NM_001033859.2:c.1738C>A	NP_001029031.1:p.Leu580Ile
NM_001270447.1:c.1873C>A	NP_001257376.1:p.Leu625Ile
NM_001270448.1:c.1576C>A	NP_001257377.1:p.Leu526Ile
XM_006721516.2:c.1825C>A	XP_006721579.2:p.Leu609Ile
XM_011523829.1:c.1723C>A	XP_011522131.1:p.Leu575Ile
XM_011523830.1:c.1702C>A	XP_011522132.1:p.Leu568Ile
XR_934021.1:n.1907C>A
XR_934022.1:n.1813C>A
XR_934023.1:n.1834C>A
XM_006721516.3:c.1825C>A	XP_006721579.2:p.Leu609Ile
XM_011523829.2:c.1723C>A	XP_011522131.1:p.Leu575Ile
XM_011523830.2:c.1702C>A	XP_011522132.1:p.Leu568Ile
XM_024450741.1:c.1792C>A	XP_024306509.1:p.Leu598Ile
XR_934021.2:n.1859C>A
XR_934022.2:n.1765C>A
XR_934023.2:n.1786C>A
NM_000018.4:c.1804C>A MANE Select	NP_000009.1:p.Leu602Ile
NM_001033859.3:c.1738C>A	NP_001029031.1:p.Leu580Ile
NM_001270447.2:c.1873C>A	NP_001257376.1:p.Leu625Ile
NM_001270448.2:c.1576C>A	NP_001257377.1:p.Leu526Ile