Canonical Allele Identifier: CA397726010

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128289T>A (hg19) ; chr17:g.7224970T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224970T>A , CM000679.2:g.7224970T>A	GRCh38
NC_000017.10:g.7128289T>A , CM000679.1:g.7128289T>A	GRCh37
NC_000017.9:g.7069013T>A	NCBI36
NG_007975.1:g.10137T>A
NG_008391.2:g.81A>T
NG_033038.1:g.14575A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1841T>A MANE Select	ENSP00000349297.5:p.Ile614Asn
ENST00000322910.9:c.*1796T>A	ENSP00000325395.5:n.*1796T>A
ENST00000350303.9:c.1775T>A	ENSP00000344152.5:p.Ile592Asn
ENST00000356839.9:c.1841T>A	ENSP00000349297.5:p.Ile614Asn
ENST00000542255.6:c.720T>A
ENST00000543245.6:c.1910T>A	ENSP00000438689.2:p.Ile637Asn
ENST00000578033.1:n.266T>A
ENST00000578319.5:n.422T>A
ENST00000578711.1:n.1466T>A
ENST00000578809.5:n.413T>A
ENST00000579425.5:n.957T>A
ENST00000579546.1:c.576T>A
ENST00000583848.5:c.207T>A	ENSP00000466487.1:n.207T>A
ENST00000583850.5:n.612T>A
ENST00000583858.5:c.772T>A
NM_000018.3:c.1841T>A	NP_000009.1:p.Ile614Asn
NM_001033859.2:c.1775T>A	NP_001029031.1:p.Ile592Asn
NM_001270447.1:c.1910T>A	NP_001257376.1:p.Ile637Asn
NM_001270448.1:c.1613T>A	NP_001257377.1:p.Ile538Asn
XM_006721516.2:c.1862T>A	XP_006721579.2:p.Ile621Asn
XM_011523829.1:c.1760T>A	XP_011522131.1:p.Ile587Asn
XM_011523830.1:c.1739T>A	XP_011522132.1:p.Ile580Asn
XR_934021.1:n.1944T>A
XR_934022.1:n.1850T>A
XR_934023.1:n.1871T>A
XM_006721516.3:c.1862T>A	XP_006721579.2:p.Ile621Asn
XM_011523829.2:c.1760T>A	XP_011522131.1:p.Ile587Asn
XM_011523830.2:c.1739T>A	XP_011522132.1:p.Ile580Asn
XM_024450741.1:c.1829T>A	XP_024306509.1:p.Ile610Asn
XR_934021.2:n.1896T>A
XR_934022.2:n.1802T>A
XR_934023.2:n.1823T>A
NM_000018.4:c.1841T>A MANE Select	NP_000009.1:p.Ile614Asn
NM_001033859.3:c.1775T>A	NP_001029031.1:p.Ile592Asn
NM_001270447.2:c.1910T>A	NP_001257376.1:p.Ile637Asn
NM_001270448.2:c.1613T>A	NP_001257377.1:p.Ile538Asn