Canonical Allele Identifier: CA397724964

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127320C>A (hg19) ; chr17:g.7224001C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224001C>A , CM000679.2:g.7224001C>A	GRCh38
NC_000017.10:g.7127320C>A , CM000679.1:g.7127320C>A	GRCh37
NC_000017.9:g.7068044C>A	NCBI36
NG_007975.1:g.9168C>A
NG_008391.2:g.1050G>T
NG_033038.1:g.15544G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1366C>A MANE Select	ENSP00000349297.5:p.Arg456Ser
ENST00000322910.9:c.*1321C>A	ENSP00000325395.5:n.*1321C>A
ENST00000350303.9:c.1300C>A	ENSP00000344152.5:p.Arg434Ser
ENST00000356839.9:c.1366C>A	ENSP00000349297.5:p.Arg456Ser
ENST00000542255.6:c.224C>A
ENST00000543245.6:c.1435C>A	ENSP00000438689.2:p.Arg479Ser
ENST00000578711.1:n.497C>A
ENST00000579425.5:n.482C>A
ENST00000579546.1:c.203C>A
ENST00000579894.5:n.77C>A
ENST00000583074.5:n.85C>A
ENST00000583850.5:n.141C>A
ENST00000583858.5:c.395C>A
ENST00000585203.6:n.557C>A
NM_000018.3:c.1366C>A	NP_000009.1:p.Arg456Ser
NM_001033859.2:c.1300C>A	NP_001029031.1:p.Arg434Ser
NM_001270447.1:c.1435C>A	NP_001257376.1:p.Arg479Ser
NM_001270448.1:c.1138C>A	NP_001257377.1:p.Arg380Ser
XM_006721516.2:c.1366C>A	XP_006721579.2:p.Arg456Ser
XM_011523829.1:c.1366C>A	XP_011522131.1:p.Arg456Ser
XM_011523830.1:c.1366C>A	XP_011522132.1:p.Arg456Ser
XR_934021.1:n.1473C>A
XR_934022.1:n.1473C>A
XR_934023.1:n.1473C>A
XM_006721516.3:c.1366C>A	XP_006721579.2:p.Arg456Ser
XM_011523829.2:c.1366C>A	XP_011522131.1:p.Arg456Ser
XM_011523830.2:c.1366C>A	XP_011522132.1:p.Arg456Ser
XM_024450741.1:c.1366C>A	XP_024306509.1:p.Arg456Ser
XR_934021.2:n.1425C>A
XR_934022.2:n.1425C>A
XR_934023.2:n.1425C>A
NM_000018.4:c.1366C>A MANE Select	NP_000009.1:p.Arg456Ser
NM_001033859.3:c.1300C>A	NP_001029031.1:p.Arg434Ser
NM_001270447.2:c.1435C>A	NP_001257376.1:p.Arg479Ser
NM_001270448.2:c.1138C>A	NP_001257377.1:p.Arg380Ser