Canonical Allele Identifier: CA497694412

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128185T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1809T>C MANE Select	ENSP00000349297.5:p.Cys603=
ENST00000322910.9:c.*1764T>C	ENSP00000325395.5:n.*1764T>C
ENST00000350303.9:c.1743T>C	ENSP00000344152.5:p.Cys581=
ENST00000356839.9:c.1809T>C	ENSP00000349297.5:p.Cys603=
ENST00000542255.6:c.688T>C
ENST00000543245.6:c.1878T>C	ENSP00000438689.2:p.Cys626=
ENST00000578033.1:n.234T>C
ENST00000578319.5:n.390T>C
ENST00000578711.1:n.1362T>C
ENST00000578809.5:n.381T>C
ENST00000579425.5:n.925T>C
ENST00000579546.1:c.544T>C
ENST00000583848.5:c.175T>C	ENSP00000466487.1:n.175T>C
ENST00000583850.5:n.580T>C
ENST00000583858.5:c.740T>C
NM_000018.3:c.1809T>C	NP_000009.1:p.Cys603=
NM_001033859.2:c.1743T>C	NP_001029031.1:p.Cys581=
NM_001270447.1:c.1878T>C	NP_001257376.1:p.Cys626=
NM_001270448.1:c.1581T>C	NP_001257377.1:p.Cys527=
XM_006721516.2:c.1830T>C	XP_006721579.2:p.Cys610=
XM_011523829.1:c.1728T>C	XP_011522131.1:p.Cys576=
XM_011523830.1:c.1707T>C	XP_011522132.1:p.Cys569=
XR_934021.1:n.1912T>C
XR_934022.1:n.1818T>C
XR_934023.1:n.1839T>C
XM_006721516.3:c.1830T>C	XP_006721579.2:p.Cys610=
XM_011523829.2:c.1728T>C	XP_011522131.1:p.Cys576=
XM_011523830.2:c.1707T>C	XP_011522132.1:p.Cys569=
XM_024450741.1:c.1797T>C	XP_024306509.1:p.Cys599=
XR_934021.2:n.1864T>C
XR_934022.2:n.1770T>C
XR_934023.2:n.1791T>C
NM_000018.4:c.1809T>C MANE Select	NP_000009.1:p.Cys603=
NM_001033859.3:c.1743T>C	NP_001029031.1:p.Cys581=
NM_001270447.2:c.1878T>C	NP_001257376.1:p.Cys626=
NM_001270448.2:c.1581T>C	NP_001257377.1:p.Cys527=