Canonical Allele Identifier: CA397725438

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127697T>A (hg19) ; chr17:g.7224378T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224378T>A , CM000679.2:g.7224378T>A	GRCh38
NC_000017.10:g.7127697T>A , CM000679.1:g.7127697T>A	GRCh37
NC_000017.9:g.7068421T>A	NCBI36
NG_007975.1:g.9545T>A
NG_008391.2:g.673A>T
NG_033038.1:g.15167A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1590T>A MANE Select	ENSP00000349297.5:p.Ser530Arg
ENST00000322910.9:c.*1545T>A	ENSP00000325395.5:n.*1545T>A
ENST00000350303.9:c.1524T>A	ENSP00000344152.5:p.Ser508Arg
ENST00000356839.9:c.1590T>A	ENSP00000349297.5:p.Ser530Arg
ENST00000542255.6:c.448T>A
ENST00000543245.6:c.1659T>A	ENSP00000438689.2:p.Ser553Arg
ENST00000578319.5:n.85T>A
ENST00000578711.1:n.874T>A
ENST00000578809.5:n.162T>A
ENST00000579391.1:n.198T>A
ENST00000579425.5:n.706T>A
ENST00000579546.1:c.329T>A
ENST00000579894.5:n.377T>A
ENST00000582450.1:n.98T>A
ENST00000583074.5:n.211T>A
ENST00000583850.5:n.365T>A
ENST00000583858.5:c.521T>A
ENST00000585203.6:n.781T>A
NM_000018.3:c.1590T>A	NP_000009.1:p.Ser530Arg
NM_001033859.2:c.1524T>A	NP_001029031.1:p.Ser508Arg
NM_001270447.1:c.1659T>A	NP_001257376.1:p.Ser553Arg
NM_001270448.1:c.1362T>A	NP_001257377.1:p.Ser454Arg
XM_006721516.2:c.1590T>A	XP_006721579.2:p.Ser530Arg
XM_011523829.1:c.1492T>A	XP_011522131.1:p.Ser498Thr
XM_011523830.1:c.1492T>A	XP_011522132.1:p.Ser498Thr
XR_934021.1:n.1697T>A
XR_934022.1:n.1599T>A
XR_934023.1:n.1599T>A
XM_006721516.3:c.1590T>A	XP_006721579.2:p.Ser530Arg
XM_011523829.2:c.1492T>A	XP_011522131.1:p.Ser498Thr
XM_011523830.2:c.1492T>A	XP_011522132.1:p.Ser498Thr
XM_024450741.1:c.1492T>A	XP_024306509.1:p.Ser498Thr
XR_934021.2:n.1649T>A
XR_934022.2:n.1551T>A
XR_934023.2:n.1551T>A
NM_000018.4:c.1590T>A MANE Select	NP_000009.1:p.Ser530Arg
NM_001033859.3:c.1524T>A	NP_001029031.1:p.Ser508Arg
NM_001270447.2:c.1659T>A	NP_001257376.1:p.Ser553Arg
NM_001270448.2:c.1362T>A	NP_001257377.1:p.Ser454Arg