Canonical Allele Identifier: CA397725721

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127999A>C (hg19) ; chr17:g.7224680A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224680A>C , CM000679.2:g.7224680A>C	GRCh38
NC_000017.10:g.7127999A>C , CM000679.1:g.7127999A>C	GRCh37
NC_000017.9:g.7068723A>C	NCBI36
NG_007975.1:g.9847A>C
NG_008391.2:g.371T>G
NG_033038.1:g.14865T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1717A>C MANE Select	ENSP00000349297.5:p.Ile573Leu
ENST00000322910.9:c.*1672A>C	ENSP00000325395.5:n.*1672A>C
ENST00000350303.9:c.1651A>C	ENSP00000344152.5:p.Ile551Leu
ENST00000356839.9:c.1717A>C	ENSP00000349297.5:p.Ile573Leu
ENST00000542255.6:c.537-35A>C
ENST00000543245.6:c.1786A>C	ENSP00000438689.2:p.Ile596Leu
ENST00000578033.1:n.48A>C
ENST00000578319.5:n.298A>C
ENST00000578711.1:n.1176A>C
ENST00000578809.5:n.289A>C
ENST00000579425.5:n.833A>C
ENST00000579546.1:c.452A>C
ENST00000583074.5:n.300-35A>C
ENST00000583848.5:c.83A>C	ENSP00000466487.1:p.His28Pro
ENST00000583850.5:n.488A>C
ENST00000583858.5:c.648A>C
ENST00000585203.6:n.908A>C
NM_000018.3:c.1717A>C	NP_000009.1:p.Ile573Leu
NM_001033859.2:c.1651A>C	NP_001029031.1:p.Ile551Leu
NM_001270447.1:c.1786A>C	NP_001257376.1:p.Ile596Leu
NM_001270448.1:c.1489A>C	NP_001257377.1:p.Ile497Leu
XM_006721516.2:c.1679-35A>C	XP_006721579.2:n.1679-35A>C
XM_011523829.1:c.1577-35A>C	XP_011522131.1:n.1577-35A>C
XM_011523830.1:c.1615A>C	XP_011522132.1:p.Ile539Leu
XR_934021.1:n.1820A>C
XR_934022.1:n.1726A>C
XR_934023.1:n.1688-35A>C
XM_006721516.3:c.1679-35A>C	XP_006721579.2:n.1679-35A>C
XM_011523829.2:c.1577-35A>C	XP_011522131.1:n.1577-35A>C
XM_011523830.2:c.1615A>C	XP_011522132.1:p.Ile539Leu
XM_024450741.1:c.1705A>C	XP_024306509.1:p.Ile569Leu
XR_934021.2:n.1772A>C
XR_934022.2:n.1678A>C
XR_934023.2:n.1640-35A>C
NM_000018.4:c.1717A>C MANE Select	NP_000009.1:p.Ile573Leu
NM_001033859.3:c.1651A>C	NP_001029031.1:p.Ile551Leu
NM_001270447.2:c.1786A>C	NP_001257376.1:p.Ile596Leu
NM_001270448.2:c.1489A>C	NP_001257377.1:p.Ile497Leu