Canonical Allele Identifier: CA397726027

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128298G>T (hg19) ; chr17:g.7224979G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224979G>T , CM000679.2:g.7224979G>T	GRCh38
NC_000017.10:g.7128298G>T , CM000679.1:g.7128298G>T	GRCh37
NC_000017.9:g.7069022G>T	NCBI36
NG_007975.1:g.10146G>T
NG_008391.2:g.72C>A
NG_033038.1:g.14566C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1850G>T MANE Select	ENSP00000349297.5:p.Gly617Val
ENST00000322910.9:c.*1805G>T	ENSP00000325395.5:n.*1805G>T
ENST00000350303.9:c.1784G>T	ENSP00000344152.5:p.Gly595Val
ENST00000356839.9:c.1850G>T	ENSP00000349297.5:p.Gly617Val
ENST00000542255.6:c.729G>T
ENST00000543245.6:c.1919G>T	ENSP00000438689.2:p.Gly640Val
ENST00000578033.1:n.275G>T
ENST00000578319.5:n.431G>T
ENST00000578711.1:n.1475G>T
ENST00000578809.5:n.422G>T
ENST00000579425.5:n.966G>T
ENST00000583848.5:c.216G>T	ENSP00000466487.1:n.216G>T
ENST00000583850.5:n.621G>T
ENST00000583858.5:c.781G>T
NM_000018.3:c.1850G>T	NP_000009.1:p.Gly617Val
NM_001033859.2:c.1784G>T	NP_001029031.1:p.Gly595Val
NM_001270447.1:c.1919G>T	NP_001257376.1:p.Gly640Val
NM_001270448.1:c.1622G>T	NP_001257377.1:p.Gly541Val
XM_006721516.2:c.1871G>T	XP_006721579.2:p.Gly624Val
XM_011523829.1:c.1769G>T	XP_011522131.1:p.Gly590Val
XM_011523830.1:c.1748G>T	XP_011522132.1:p.Gly583Val
XR_934021.1:n.1953G>T
XR_934022.1:n.1859G>T
XR_934023.1:n.1880G>T
XM_006721516.3:c.1871G>T	XP_006721579.2:p.Gly624Val
XM_011523829.2:c.1769G>T	XP_011522131.1:p.Gly590Val
XM_011523830.2:c.1748G>T	XP_011522132.1:p.Gly583Val
XM_024450741.1:c.1838G>T	XP_024306509.1:p.Gly613Val
XR_934021.2:n.1905G>T
XR_934022.2:n.1811G>T
XR_934023.2:n.1832G>T
NM_000018.4:c.1850G>T MANE Select	NP_000009.1:p.Gly617Val
NM_001033859.3:c.1784G>T	NP_001029031.1:p.Gly595Val
NM_001270447.2:c.1919G>T	NP_001257376.1:p.Gly640Val
NM_001270448.2:c.1622G>T	NP_001257377.1:p.Gly541Val