Canonical Allele Identifier: CA397723421

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125313G>T (hg19) ; chr17:g.7221994G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221994G>T , CM000679.2:g.7221994G>T	GRCh38
NC_000017.10:g.7125313G>T , CM000679.1:g.7125313G>T	GRCh37
NC_000017.9:g.7066037G>T	NCBI36
NG_007975.1:g.7161G>T
NG_008391.2:g.3057C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.665G>T MANE Select	ENSP00000349297.5:p.Gly222Val
ENST00000322910.9:c.*620G>T	ENSP00000325395.5:n.*620G>T
ENST00000350303.9:c.599G>T	ENSP00000344152.5:p.Gly200Val
ENST00000356839.9:c.665G>T	ENSP00000349297.5:p.Gly222Val
ENST00000543245.6:c.734G>T	ENSP00000438689.2:p.Gly245Val
ENST00000577191.5:n.742G>T
ENST00000577857.5:n.481G>T
ENST00000579286.5:n.846G>T
ENST00000580365.1:n.396G>T
ENST00000581378.5:c.383G>T
ENST00000581562.5:n.567G>T
ENST00000582379.1:n.49G>T
ENST00000583760.1:n.447G>T
NM_000018.3:c.665G>T	NP_000009.1:p.Gly222Val
NM_001033859.2:c.599G>T	NP_001029031.1:p.Gly200Val
NM_001270447.1:c.734G>T	NP_001257376.1:p.Gly245Val
NM_001270448.1:c.437G>T	NP_001257377.1:p.Gly146Val
XM_006721516.2:c.665G>T	XP_006721579.2:p.Gly222Val
XM_011523829.1:c.665G>T	XP_011522131.1:p.Gly222Val
XM_011523830.1:c.665G>T	XP_011522132.1:p.Gly222Val
XR_934021.1:n.772G>T
XR_934022.1:n.772G>T
XR_934023.1:n.772G>T
XM_006721516.3:c.665G>T	XP_006721579.2:p.Gly222Val
XM_011523829.2:c.665G>T	XP_011522131.1:p.Gly222Val
XM_011523830.2:c.665G>T	XP_011522132.1:p.Gly222Val
XM_024450741.1:c.665G>T	XP_024306509.1:p.Gly222Val
XR_934021.2:n.724G>T
XR_934022.2:n.724G>T
XR_934023.2:n.724G>T
NM_000018.4:c.665G>T MANE Select	NP_000009.1:p.Gly222Val
NM_001033859.3:c.599G>T	NP_001029031.1:p.Gly200Val
NM_001270447.2:c.734G>T	NP_001257376.1:p.Gly245Val
NM_001270448.2:c.437G>T	NP_001257377.1:p.Gly146Val