Canonical Allele Identifier: CA397725441

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127699G>T (hg19) ; chr17:g.7224380G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224380G>T , CM000679.2:g.7224380G>T	GRCh38
NC_000017.10:g.7127699G>T , CM000679.1:g.7127699G>T	GRCh37
NC_000017.9:g.7068423G>T	NCBI36
NG_007975.1:g.9547G>T
NG_008391.2:g.671C>A
NG_033038.1:g.15165C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1592G>T MANE Select	ENSP00000349297.5:p.Arg531Leu
ENST00000322910.9:c.*1547G>T	ENSP00000325395.5:n.*1547G>T
ENST00000350303.9:c.1526G>T	ENSP00000344152.5:p.Arg509Leu
ENST00000356839.9:c.1592G>T	ENSP00000349297.5:p.Arg531Leu
ENST00000542255.6:c.450G>T
ENST00000543245.6:c.1661G>T	ENSP00000438689.2:p.Arg554Leu
ENST00000578319.5:n.87G>T
ENST00000578711.1:n.876G>T
ENST00000578809.5:n.164G>T
ENST00000579391.1:n.200G>T
ENST00000579425.5:n.708G>T
ENST00000579546.1:c.331G>T
ENST00000579894.5:n.379G>T
ENST00000582450.1:n.100G>T
ENST00000583074.5:n.213G>T
ENST00000583850.5:n.367G>T
ENST00000583858.5:c.523G>T
ENST00000585203.6:n.783G>T
NM_000018.3:c.1592G>T	NP_000009.1:p.Arg531Leu
NM_001033859.2:c.1526G>T	NP_001029031.1:p.Arg509Leu
NM_001270447.1:c.1661G>T	NP_001257376.1:p.Arg554Leu
NM_001270448.1:c.1364G>T	NP_001257377.1:p.Arg455Leu
XM_006721516.2:c.1592G>T	XP_006721579.2:p.Arg531Leu
XM_011523829.1:c.1494G>T	XP_011522131.1:p.Ser498=
XM_011523830.1:c.1494G>T	XP_011522132.1:p.Ser498=
XR_934021.1:n.1699G>T
XR_934022.1:n.1601G>T
XR_934023.1:n.1601G>T
XM_006721516.3:c.1592G>T	XP_006721579.2:p.Arg531Leu
XM_011523829.2:c.1494G>T	XP_011522131.1:p.Ser498=
XM_011523830.2:c.1494G>T	XP_011522132.1:p.Ser498=
XM_024450741.1:c.1494G>T	XP_024306509.1:p.Ser498=
XR_934021.2:n.1651G>T
XR_934022.2:n.1553G>T
XR_934023.2:n.1553G>T
NM_000018.4:c.1592G>T MANE Select	NP_000009.1:p.Arg531Leu
NM_001033859.3:c.1526G>T	NP_001029031.1:p.Arg509Leu
NM_001270447.2:c.1661G>T	NP_001257376.1:p.Arg554Leu
NM_001270448.2:c.1364G>T	NP_001257377.1:p.Arg455Leu