Canonical Allele Identifier: CA497694265

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127801A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224482A>T , CM000679.2:g.7224482A>T	GRCh38
NC_000017.10:g.7127801A>T , CM000679.1:g.7127801A>T	GRCh37
NC_000017.9:g.7068525A>T	NCBI36
NG_007975.1:g.9649A>T
NG_008391.2:g.569T>A
NG_033038.1:g.15063T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1608A>T MANE Select	ENSP00000349297.5:p.Ala536=
ENST00000322910.9:c.*1563A>T	ENSP00000325395.5:n.*1563A>T
ENST00000350303.9:c.1542A>T	ENSP00000344152.5:p.Ala514=
ENST00000356839.9:c.1608A>T	ENSP00000349297.5:p.Ala536=
ENST00000542255.6:c.466A>T
ENST00000543245.6:c.1677A>T	ENSP00000438689.2:p.Ala559=
ENST00000578319.5:n.189A>T
ENST00000578711.1:n.978A>T
ENST00000578809.5:n.180A>T
ENST00000579391.1:n.214-2A>T
ENST00000579425.5:n.724A>T
ENST00000579546.1:c.345-2A>T
ENST00000579894.5:n.395A>T
ENST00000582450.1:n.116A>T
ENST00000583074.5:n.229A>T
ENST00000583850.5:n.381-2A>T
ENST00000583858.5:c.539A>T
ENST00000585203.6:n.799A>T
NM_000018.3:c.1608A>T	NP_000009.1:p.Ala536=
NM_001033859.2:c.1542A>T	NP_001029031.1:p.Ala514=
NM_001270447.1:c.1677A>T	NP_001257376.1:p.Ala559=
NM_001270448.1:c.1380A>T	NP_001257377.1:p.Ala460=
XM_006721516.2:c.1608A>T	XP_006721579.2:p.Ala536=
XM_011523829.1:c.1508-2A>T	XP_011522131.1:n.1508-2A>T
XM_011523830.1:c.1508-2A>T	XP_011522132.1:n.1508-2A>T
XR_934021.1:n.1713-2A>T
XR_934022.1:n.1617A>T
XR_934023.1:n.1617A>T
XM_006721516.3:c.1608A>T	XP_006721579.2:p.Ala536=
XM_011523829.2:c.1508-2A>T	XP_011522131.1:n.1508-2A>T
XM_011523830.2:c.1508-2A>T	XP_011522132.1:n.1508-2A>T
XM_024450741.1:c.1596A>T	XP_024306509.1:p.Ala532=
XR_934021.2:n.1665-2A>T
XR_934022.2:n.1569A>T
XR_934023.2:n.1569A>T
NM_000018.4:c.1608A>T MANE Select	NP_000009.1:p.Ala536=
NM_001033859.3:c.1542A>T	NP_001029031.1:p.Ala514=
NM_001270447.2:c.1677A>T	NP_001257376.1:p.Ala559=
NM_001270448.2:c.1380A>T	NP_001257377.1:p.Ala460=