Canonical Allele Identifier: CA397723588

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125393T>G (hg19) ; chr17:g.7222074T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222074T>G , CM000679.2:g.7222074T>G	GRCh38
NC_000017.10:g.7125393T>G , CM000679.1:g.7125393T>G	GRCh37
NC_000017.9:g.7066117T>G	NCBI36
NG_007975.1:g.7241T>G
NG_008391.2:g.2977A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.745T>G MANE Select	ENSP00000349297.5:p.Trp249Gly
ENST00000322910.9:c.*700T>G	ENSP00000325395.5:n.*700T>G
ENST00000350303.9:c.679T>G	ENSP00000344152.5:p.Trp227Gly
ENST00000356839.9:c.745T>G	ENSP00000349297.5:p.Trp249Gly
ENST00000543245.6:c.814T>G	ENSP00000438689.2:p.Trp272Gly
ENST00000577191.5:n.822T>G
ENST00000577857.5:n.561T>G
ENST00000579286.5:n.926T>G
ENST00000580365.1:n.476T>G
ENST00000581378.5:c.463T>G
ENST00000582379.1:n.129T>G
ENST00000583760.1:n.527T>G
NM_000018.3:c.745T>G	NP_000009.1:p.Trp249Gly
NM_001033859.2:c.679T>G	NP_001029031.1:p.Trp227Gly
NM_001270447.1:c.814T>G	NP_001257376.1:p.Trp272Gly
NM_001270448.1:c.517T>G	NP_001257377.1:p.Trp173Gly
XM_006721516.2:c.745T>G	XP_006721579.2:p.Trp249Gly
XM_011523829.1:c.745T>G	XP_011522131.1:p.Trp249Gly
XM_011523830.1:c.745T>G	XP_011522132.1:p.Trp249Gly
XR_934021.1:n.852T>G
XR_934022.1:n.852T>G
XR_934023.1:n.852T>G
XM_006721516.3:c.745T>G	XP_006721579.2:p.Trp249Gly
XM_011523829.2:c.745T>G	XP_011522131.1:p.Trp249Gly
XM_011523830.2:c.745T>G	XP_011522132.1:p.Trp249Gly
XM_024450741.1:c.745T>G	XP_024306509.1:p.Trp249Gly
XR_934021.2:n.804T>G
XR_934022.2:n.804T>G
XR_934023.2:n.804T>G
NM_000018.4:c.745T>G MANE Select	NP_000009.1:p.Trp249Gly
NM_001033859.3:c.679T>G	NP_001029031.1:p.Trp227Gly
NM_001270447.2:c.814T>G	NP_001257376.1:p.Trp272Gly
NM_001270448.2:c.517T>G	NP_001257377.1:p.Trp173Gly