Canonical Allele Identifier: CA397725460

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127708A>G (hg19) ; chr17:g.7224389A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224389A>G , CM000679.2:g.7224389A>G	GRCh38
NC_000017.10:g.7127708A>G , CM000679.1:g.7127708A>G	GRCh37
NC_000017.9:g.7068432A>G	NCBI36
NG_007975.1:g.9556A>G
NG_008391.2:g.662T>C
NG_033038.1:g.15156T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1601A>G MANE Select	ENSP00000349297.5:p.Glu534Gly
ENST00000322910.9:c.*1556A>G	ENSP00000325395.5:n.*1556A>G
ENST00000350303.9:c.1535A>G	ENSP00000344152.5:p.Glu512Gly
ENST00000356839.9:c.1601A>G	ENSP00000349297.5:p.Glu534Gly
ENST00000542255.6:c.459A>G
ENST00000543245.6:c.1670A>G	ENSP00000438689.2:p.Glu557Gly
ENST00000578319.5:n.96A>G
ENST00000578711.1:n.885A>G
ENST00000578809.5:n.173A>G
ENST00000579391.1:n.209A>G
ENST00000579425.5:n.717A>G
ENST00000579546.1:c.340A>G
ENST00000579894.5:n.388A>G
ENST00000582450.1:n.109A>G
ENST00000583074.5:n.222A>G
ENST00000583850.5:n.376A>G
ENST00000583858.5:c.532A>G
ENST00000585203.6:n.792A>G
NM_000018.3:c.1601A>G	NP_000009.1:p.Glu534Gly
NM_001033859.2:c.1535A>G	NP_001029031.1:p.Glu512Gly
NM_001270447.1:c.1670A>G	NP_001257376.1:p.Glu557Gly
NM_001270448.1:c.1373A>G	NP_001257377.1:p.Glu458Gly
XM_006721516.2:c.1601A>G	XP_006721579.2:p.Glu534Gly
XM_011523829.1:c.1503A>G	XP_011522131.1:p.Arg501=
XM_011523830.1:c.1503A>G	XP_011522132.1:p.Arg501=
XR_934021.1:n.1708A>G
XR_934022.1:n.1610A>G
XR_934023.1:n.1610A>G
XM_006721516.3:c.1601A>G	XP_006721579.2:p.Glu534Gly
XM_011523829.2:c.1503A>G	XP_011522131.1:p.Arg501=
XM_011523830.2:c.1503A>G	XP_011522132.1:p.Arg501=
XM_024450741.1:c.1503A>G	XP_024306509.1:p.Arg501=
XR_934021.2:n.1660A>G
XR_934022.2:n.1562A>G
XR_934023.2:n.1562A>G
NM_000018.4:c.1601A>G MANE Select	NP_000009.1:p.Glu534Gly
NM_001033859.3:c.1535A>G	NP_001029031.1:p.Glu512Gly
NM_001270447.2:c.1670A>G	NP_001257376.1:p.Glu557Gly
NM_001270448.2:c.1373A>G	NP_001257377.1:p.Glu458Gly