Canonical Allele Identifier: CA497694603

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071415834
• MyVariant Identifiers: chr17:g.7128404A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225085A>C , CM000679.2:g.7225085A>C	GRCh38
NC_000017.10:g.7128404A>C , CM000679.1:g.7128404A>C	GRCh37
NC_000017.9:g.7069128A>C	NCBI36
NG_007975.1:g.10252A>C
NG_033038.1:g.14460T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1956A>C MANE Select	ENSP00000349297.5:p.Pro652=
ENST00000322910.9:c.*1911A>C	ENSP00000325395.5:n.*1911A>C
ENST00000350303.9:c.1890A>C	ENSP00000344152.5:p.Pro630=
ENST00000356839.9:c.1956A>C	ENSP00000349297.5:p.Pro652=
ENST00000542255.6:c.835A>C
ENST00000543245.6:c.2025A>C	ENSP00000438689.2:p.Pro675=
ENST00000578033.1:n.381A>C
ENST00000578319.5:n.537A>C
ENST00000578711.1:n.1581A>C
ENST00000578809.5:n.528A>C
ENST00000579425.5:n.1072A>C
ENST00000583848.5:c.322A>C	ENSP00000466487.1:n.322A>C
ENST00000583850.5:n.727A>C
ENST00000583858.5:c.887A>C
NM_000018.3:c.1956A>C	NP_000009.1:p.Pro652=
NM_001033859.2:c.1890A>C	NP_001029031.1:p.Pro630=
NM_001270447.1:c.2025A>C	NP_001257376.1:p.Pro675=
NM_001270448.1:c.1728A>C	NP_001257377.1:p.Pro576=
XM_006721516.2:c.1977A>C	XP_006721579.2:p.Pro659=
XM_011523829.1:c.1875A>C	XP_011522131.1:p.Pro625=
XM_011523830.1:c.1854A>C	XP_011522132.1:p.Pro618=
XR_934021.1:n.2059A>C
XR_934022.1:n.1965A>C
XR_934023.1:n.1986A>C
XM_006721516.3:c.1977A>C	XP_006721579.2:p.Pro659=
XM_011523829.2:c.1875A>C	XP_011522131.1:p.Pro625=
XM_011523830.2:c.1854A>C	XP_011522132.1:p.Pro618=
XM_024450741.1:c.1944A>C	XP_024306509.1:p.Pro648=
XR_934021.2:n.2011A>C
XR_934022.2:n.1917A>C
XR_934023.2:n.1938A>C
NM_000018.4:c.1956A>C MANE Select	NP_000009.1:p.Pro652=
NM_001033859.3:c.1890A>C	NP_001029031.1:p.Pro630=
NM_001270447.2:c.2025A>C	NP_001257376.1:p.Pro675=
NM_001270448.2:c.1728A>C	NP_001257377.1:p.Pro576=