Canonical Allele Identifier: CA397725934

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128185T>G (hg19) ; chr17:g.7224866T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224866T>G , CM000679.2:g.7224866T>G	GRCh38
NC_000017.10:g.7128185T>G , CM000679.1:g.7128185T>G	GRCh37
NC_000017.9:g.7068909T>G	NCBI36
NG_007975.1:g.10033T>G
NG_008391.2:g.185A>C
NG_033038.1:g.14679A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1809T>G MANE Select	ENSP00000349297.5:p.Cys603Trp
ENST00000322910.9:c.*1764T>G	ENSP00000325395.5:n.*1764T>G
ENST00000350303.9:c.1743T>G	ENSP00000344152.5:p.Cys581Trp
ENST00000356839.9:c.1809T>G	ENSP00000349297.5:p.Cys603Trp
ENST00000542255.6:c.688T>G
ENST00000543245.6:c.1878T>G	ENSP00000438689.2:p.Cys626Trp
ENST00000578033.1:n.234T>G
ENST00000578319.5:n.390T>G
ENST00000578711.1:n.1362T>G
ENST00000578809.5:n.381T>G
ENST00000579425.5:n.925T>G
ENST00000579546.1:c.544T>G
ENST00000583848.5:c.175T>G	ENSP00000466487.1:n.175T>G
ENST00000583850.5:n.580T>G
ENST00000583858.5:c.740T>G
NM_000018.3:c.1809T>G	NP_000009.1:p.Cys603Trp
NM_001033859.2:c.1743T>G	NP_001029031.1:p.Cys581Trp
NM_001270447.1:c.1878T>G	NP_001257376.1:p.Cys626Trp
NM_001270448.1:c.1581T>G	NP_001257377.1:p.Cys527Trp
XM_006721516.2:c.1830T>G	XP_006721579.2:p.Cys610Trp
XM_011523829.1:c.1728T>G	XP_011522131.1:p.Cys576Trp
XM_011523830.1:c.1707T>G	XP_011522132.1:p.Cys569Trp
XR_934021.1:n.1912T>G
XR_934022.1:n.1818T>G
XR_934023.1:n.1839T>G
XM_006721516.3:c.1830T>G	XP_006721579.2:p.Cys610Trp
XM_011523829.2:c.1728T>G	XP_011522131.1:p.Cys576Trp
XM_011523830.2:c.1707T>G	XP_011522132.1:p.Cys569Trp
XM_024450741.1:c.1797T>G	XP_024306509.1:p.Cys599Trp
XR_934021.2:n.1864T>G
XR_934022.2:n.1770T>G
XR_934023.2:n.1791T>G
NM_000018.4:c.1809T>G MANE Select	NP_000009.1:p.Cys603Trp
NM_001033859.3:c.1743T>G	NP_001029031.1:p.Cys581Trp
NM_001270447.2:c.1878T>G	NP_001257376.1:p.Cys626Trp
NM_001270448.2:c.1581T>G	NP_001257377.1:p.Cys527Trp