Canonical Allele Identifier: CA397723514

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125359T>G (hg19) ; chr17:g.7222040T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222040T>G , CM000679.2:g.7222040T>G	GRCh38
NC_000017.10:g.7125359T>G , CM000679.1:g.7125359T>G	GRCh37
NC_000017.9:g.7066083T>G	NCBI36
NG_007975.1:g.7207T>G
NG_008391.2:g.3011A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.711T>G MANE Select	ENSP00000349297.5:p.Cys237Trp
ENST00000322910.9:c.*666T>G	ENSP00000325395.5:n.*666T>G
ENST00000350303.9:c.645T>G	ENSP00000344152.5:p.Cys215Trp
ENST00000356839.9:c.711T>G	ENSP00000349297.5:p.Cys237Trp
ENST00000543245.6:c.780T>G	ENSP00000438689.2:p.Cys260Trp
ENST00000577191.5:n.788T>G
ENST00000577857.5:n.527T>G
ENST00000579286.5:n.892T>G
ENST00000580365.1:n.442T>G
ENST00000581378.5:c.429T>G
ENST00000582379.1:n.95T>G
ENST00000583760.1:n.493T>G
NM_000018.3:c.711T>G	NP_000009.1:p.Cys237Trp
NM_001033859.2:c.645T>G	NP_001029031.1:p.Cys215Trp
NM_001270447.1:c.780T>G	NP_001257376.1:p.Cys260Trp
NM_001270448.1:c.483T>G	NP_001257377.1:p.Cys161Trp
XM_006721516.2:c.711T>G	XP_006721579.2:p.Cys237Trp
XM_011523829.1:c.711T>G	XP_011522131.1:p.Cys237Trp
XM_011523830.1:c.711T>G	XP_011522132.1:p.Cys237Trp
XR_934021.1:n.818T>G
XR_934022.1:n.818T>G
XR_934023.1:n.818T>G
XM_006721516.3:c.711T>G	XP_006721579.2:p.Cys237Trp
XM_011523829.2:c.711T>G	XP_011522131.1:p.Cys237Trp
XM_011523830.2:c.711T>G	XP_011522132.1:p.Cys237Trp
XM_024450741.1:c.711T>G	XP_024306509.1:p.Cys237Trp
XR_934021.2:n.770T>G
XR_934022.2:n.770T>G
XR_934023.2:n.770T>G
NM_000018.4:c.711T>G MANE Select	NP_000009.1:p.Cys237Trp
NM_001033859.3:c.645T>G	NP_001029031.1:p.Cys215Trp
NM_001270447.2:c.780T>G	NP_001257376.1:p.Cys260Trp
NM_001270448.2:c.483T>G	NP_001257377.1:p.Cys161Trp