Canonical Allele Identifier: CA397725131

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127469A>T (hg19) ; chr17:g.7224150A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224150A>T , CM000679.2:g.7224150A>T	GRCh38
NC_000017.10:g.7127469A>T , CM000679.1:g.7127469A>T	GRCh37
NC_000017.9:g.7068193A>T	NCBI36
NG_007975.1:g.9317A>T
NG_008391.2:g.901T>A
NG_033038.1:g.15395T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1439A>T MANE Select	ENSP00000349297.5:p.Lys480Ile
ENST00000322910.9:c.*1394A>T	ENSP00000325395.5:n.*1394A>T
ENST00000350303.9:c.1373A>T	ENSP00000344152.5:p.Lys458Ile
ENST00000356839.9:c.1439A>T	ENSP00000349297.5:p.Lys480Ile
ENST00000542255.6:c.297A>T
ENST00000543245.6:c.1508A>T	ENSP00000438689.2:p.Lys503Ile
ENST00000578711.1:n.646A>T
ENST00000579391.1:n.47A>T
ENST00000579425.5:n.555A>T
ENST00000579546.1:c.271+81A>T
ENST00000579894.5:n.226A>T
ENST00000583074.5:n.153+81A>T
ENST00000583850.5:n.214A>T
ENST00000583858.5:c.463+81A>T
ENST00000585203.6:n.630A>T
NM_000018.3:c.1439A>T	NP_000009.1:p.Lys480Ile
NM_001033859.2:c.1373A>T	NP_001029031.1:p.Lys458Ile
NM_001270447.1:c.1508A>T	NP_001257376.1:p.Lys503Ile
NM_001270448.1:c.1211A>T	NP_001257377.1:p.Lys404Ile
XM_006721516.2:c.1439A>T	XP_006721579.2:p.Lys480Ile
XM_011523829.1:c.1434+81A>T	XP_011522131.1:n.1434+81A>T
XM_011523830.1:c.1434+81A>T	XP_011522132.1:n.1434+81A>T
XR_934021.1:n.1546A>T
XR_934022.1:n.1541+81A>T
XR_934023.1:n.1541+81A>T
XM_006721516.3:c.1439A>T	XP_006721579.2:p.Lys480Ile
XM_011523829.2:c.1434+81A>T	XP_011522131.1:n.1434+81A>T
XM_011523830.2:c.1434+81A>T	XP_011522132.1:n.1434+81A>T
XM_024450741.1:c.1434+81A>T	XP_024306509.1:n.1434+81A>T
XR_934021.2:n.1498A>T
XR_934022.2:n.1493+81A>T
XR_934023.2:n.1493+81A>T
NM_000018.4:c.1439A>T MANE Select	NP_000009.1:p.Lys480Ile
NM_001033859.3:c.1373A>T	NP_001029031.1:p.Lys458Ile
NM_001270447.2:c.1508A>T	NP_001257376.1:p.Lys503Ile
NM_001270448.2:c.1211A>T	NP_001257377.1:p.Lys404Ile