Canonical Allele Identifier: CA397725667

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127970T>G (hg19) ; chr17:g.7224651T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224651T>G , CM000679.2:g.7224651T>G	GRCh38
NC_000017.10:g.7127970T>G , CM000679.1:g.7127970T>G	GRCh37
NC_000017.9:g.7068694T>G	NCBI36
NG_007975.1:g.9818T>G
NG_008391.2:g.400A>C
NG_033038.1:g.14894A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1688T>G MANE Select	ENSP00000349297.5:p.Phe563Cys
ENST00000322910.9:c.*1643T>G	ENSP00000325395.5:n.*1643T>G
ENST00000350303.9:c.1622T>G	ENSP00000344152.5:p.Phe541Cys
ENST00000356839.9:c.1688T>G	ENSP00000349297.5:p.Phe563Cys
ENST00000542255.6:c.537-64T>G
ENST00000543245.6:c.1757T>G	ENSP00000438689.2:p.Phe586Cys
ENST00000578033.1:n.19T>G
ENST00000578319.5:n.269T>G
ENST00000578711.1:n.1147T>G
ENST00000578809.5:n.260T>G
ENST00000579425.5:n.804T>G
ENST00000579546.1:c.423T>G
ENST00000582450.1:n.285T>G
ENST00000583074.5:n.300-64T>G
ENST00000583848.5:c.65-11T>G	ENSP00000466487.1:n.65-11T>G
ENST00000583850.5:n.459T>G
ENST00000583858.5:c.619T>G
ENST00000585203.6:n.879T>G
NM_000018.3:c.1688T>G	NP_000009.1:p.Phe563Cys
NM_001033859.2:c.1622T>G	NP_001029031.1:p.Phe541Cys
NM_001270447.1:c.1757T>G	NP_001257376.1:p.Phe586Cys
NM_001270448.1:c.1460T>G	NP_001257377.1:p.Phe487Cys
XM_006721516.2:c.1679-64T>G	XP_006721579.2:n.1679-64T>G
XM_011523829.1:c.1577-64T>G	XP_011522131.1:n.1577-64T>G
XM_011523830.1:c.1586T>G	XP_011522132.1:p.Phe529Cys
XR_934021.1:n.1791T>G
XR_934022.1:n.1697T>G
XR_934023.1:n.1688-64T>G
XM_006721516.3:c.1679-64T>G	XP_006721579.2:n.1679-64T>G
XM_011523829.2:c.1577-64T>G	XP_011522131.1:n.1577-64T>G
XM_011523830.2:c.1586T>G	XP_011522132.1:p.Phe529Cys
XM_024450741.1:c.1676T>G	XP_024306509.1:p.Phe559Cys
XR_934021.2:n.1743T>G
XR_934022.2:n.1649T>G
XR_934023.2:n.1640-64T>G
NM_000018.4:c.1688T>G MANE Select	NP_000009.1:p.Phe563Cys
NM_001033859.3:c.1622T>G	NP_001029031.1:p.Phe541Cys
NM_001270447.2:c.1757T>G	NP_001257376.1:p.Phe586Cys
NM_001270448.2:c.1460T>G	NP_001257377.1:p.Phe487Cys