Canonical Allele Identifier: CA497694464

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127694G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224375G>A , CM000679.2:g.7224375G>A	GRCh38
NC_000017.10:g.7127694G>A , CM000679.1:g.7127694G>A	GRCh37
NC_000017.9:g.7068418G>A	NCBI36
NG_007975.1:g.9542G>A
NG_008391.2:g.676C>T
NG_033038.1:g.15170C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1587G>A MANE Select	ENSP00000349297.5:p.Leu529=
ENST00000322910.9:c.*1542G>A	ENSP00000325395.5:n.*1542G>A
ENST00000350303.9:c.1521G>A	ENSP00000344152.5:p.Leu507=
ENST00000356839.9:c.1587G>A	ENSP00000349297.5:p.Leu529=
ENST00000542255.6:c.445G>A
ENST00000543245.6:c.1656G>A	ENSP00000438689.2:p.Leu552=
ENST00000578319.5:n.82G>A
ENST00000578711.1:n.871G>A
ENST00000578809.5:n.159G>A
ENST00000579391.1:n.195G>A
ENST00000579425.5:n.703G>A
ENST00000579546.1:c.326G>A
ENST00000579894.5:n.374G>A
ENST00000582450.1:n.95G>A
ENST00000583074.5:n.208G>A
ENST00000583850.5:n.362G>A
ENST00000583858.5:c.518G>A
ENST00000585203.6:n.778G>A
NM_000018.3:c.1587G>A	NP_000009.1:p.Leu529=
NM_001033859.2:c.1521G>A	NP_001029031.1:p.Leu507=
NM_001270447.1:c.1656G>A	NP_001257376.1:p.Leu552=
NM_001270448.1:c.1359G>A	NP_001257377.1:p.Leu453=
XM_006721516.2:c.1587G>A	XP_006721579.2:p.Leu529=
XM_011523829.1:c.1489G>A	XP_011522131.1:p.Glu497Lys
XM_011523830.1:c.1489G>A	XP_011522132.1:p.Glu497Lys
XR_934021.1:n.1694G>A
XR_934022.1:n.1596G>A
XR_934023.1:n.1596G>A
XM_006721516.3:c.1587G>A	XP_006721579.2:p.Leu529=
XM_011523829.2:c.1489G>A	XP_011522131.1:p.Glu497Lys
XM_011523830.2:c.1489G>A	XP_011522132.1:p.Glu497Lys
XM_024450741.1:c.1489G>A	XP_024306509.1:p.Glu497Lys
XR_934021.2:n.1646G>A
XR_934022.2:n.1548G>A
XR_934023.2:n.1548G>A
NM_000018.4:c.1587G>A MANE Select	NP_000009.1:p.Leu529=
NM_001033859.3:c.1521G>A	NP_001029031.1:p.Leu507=
NM_001270447.2:c.1656G>A	NP_001257376.1:p.Leu552=
NM_001270448.2:c.1359G>A	NP_001257377.1:p.Leu453=