Canonical Allele Identifier: CA397726264

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128409G>T (hg19) ; chr17:g.7225090G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225090G>T , CM000679.2:g.7225090G>T	GRCh38
NC_000017.10:g.7128409G>T , CM000679.1:g.7128409G>T	GRCh37
NC_000017.9:g.7069133G>T	NCBI36
NG_007975.1:g.10257G>T
NG_033038.1:g.14455C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1961G>T MANE Select	ENSP00000349297.5:p.Gly654Val
ENST00000322910.9:c.*1916G>T	ENSP00000325395.5:n.*1916G>T
ENST00000350303.9:c.1895G>T	ENSP00000344152.5:p.Gly632Val
ENST00000356839.9:c.1961G>T	ENSP00000349297.5:p.Gly654Val
ENST00000542255.6:c.840G>T
ENST00000543245.6:c.2030G>T	ENSP00000438689.2:p.Gly677Val
ENST00000578033.1:n.386G>T
ENST00000578319.5:n.542G>T
ENST00000578711.1:n.1586G>T
ENST00000578809.5:n.533G>T
ENST00000579425.5:n.1077G>T
ENST00000583848.5:c.327G>T	ENSP00000466487.1:n.327G>T
ENST00000583850.5:n.732G>T
ENST00000583858.5:c.892G>T
NM_000018.3:c.1961G>T	NP_000009.1:p.Gly654Val
NM_001033859.2:c.1895G>T	NP_001029031.1:p.Gly632Val
NM_001270447.1:c.2030G>T	NP_001257376.1:p.Gly677Val
NM_001270448.1:c.1733G>T	NP_001257377.1:p.Gly578Val
XM_006721516.2:c.1982G>T	XP_006721579.2:p.Gly661Val
XM_011523829.1:c.1880G>T	XP_011522131.1:p.Gly627Val
XM_011523830.1:c.1859G>T	XP_011522132.1:p.Gly620Val
XR_934021.1:n.2064G>T
XR_934022.1:n.1970G>T
XR_934023.1:n.1991G>T
XM_006721516.3:c.1982G>T	XP_006721579.2:p.Gly661Val
XM_011523829.2:c.1880G>T	XP_011522131.1:p.Gly627Val
XM_011523830.2:c.1859G>T	XP_011522132.1:p.Gly620Val
XM_024450741.1:c.1949G>T	XP_024306509.1:p.Gly650Val
XR_934021.2:n.2016G>T
XR_934022.2:n.1922G>T
XR_934023.2:n.1943G>T
NM_000018.4:c.1961G>T MANE Select	NP_000009.1:p.Gly654Val
NM_001033859.3:c.1895G>T	NP_001029031.1:p.Gly632Val
NM_001270447.2:c.2030G>T	NP_001257376.1:p.Gly677Val
NM_001270448.2:c.1733G>T	NP_001257377.1:p.Gly578Val