Canonical Allele Identifier: CA397726196

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128375G>C (hg19) ; chr17:g.7225056G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225056G>C , CM000679.2:g.7225056G>C	GRCh38
NC_000017.10:g.7128375G>C , CM000679.1:g.7128375G>C	GRCh37
NC_000017.9:g.7069099G>C	NCBI36
NG_007975.1:g.10223G>C
NG_033038.1:g.14489C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1927G>C MANE Select	ENSP00000349297.5:p.Glu643Gln
ENST00000322910.9:c.*1882G>C	ENSP00000325395.5:n.*1882G>C
ENST00000350303.9:c.1861G>C	ENSP00000344152.5:p.Glu621Gln
ENST00000356839.9:c.1927G>C	ENSP00000349297.5:p.Glu643Gln
ENST00000542255.6:c.806G>C
ENST00000543245.6:c.1996G>C	ENSP00000438689.2:p.Glu666Gln
ENST00000578033.1:n.352G>C
ENST00000578319.5:n.508G>C
ENST00000578711.1:n.1552G>C
ENST00000578809.5:n.499G>C
ENST00000579425.5:n.1043G>C
ENST00000583848.5:c.293G>C	ENSP00000466487.1:n.293G>C
ENST00000583850.5:n.698G>C
ENST00000583858.5:c.858G>C
NM_000018.3:c.1927G>C	NP_000009.1:p.Glu643Gln
NM_001033859.2:c.1861G>C	NP_001029031.1:p.Glu621Gln
NM_001270447.1:c.1996G>C	NP_001257376.1:p.Glu666Gln
NM_001270448.1:c.1699G>C	NP_001257377.1:p.Glu567Gln
XM_006721516.2:c.1948G>C	XP_006721579.2:p.Glu650Gln
XM_011523829.1:c.1846G>C	XP_011522131.1:p.Glu616Gln
XM_011523830.1:c.1825G>C	XP_011522132.1:p.Glu609Gln
XR_934021.1:n.2030G>C
XR_934022.1:n.1936G>C
XR_934023.1:n.1957G>C
XM_006721516.3:c.1948G>C	XP_006721579.2:p.Glu650Gln
XM_011523829.2:c.1846G>C	XP_011522131.1:p.Glu616Gln
XM_011523830.2:c.1825G>C	XP_011522132.1:p.Glu609Gln
XM_024450741.1:c.1915G>C	XP_024306509.1:p.Glu639Gln
XR_934021.2:n.1982G>C
XR_934022.2:n.1888G>C
XR_934023.2:n.1909G>C
NM_000018.4:c.1927G>C MANE Select	NP_000009.1:p.Glu643Gln
NM_001033859.3:c.1861G>C	NP_001029031.1:p.Glu621Gln
NM_001270447.2:c.1996G>C	NP_001257376.1:p.Glu666Gln
NM_001270448.2:c.1699G>C	NP_001257377.1:p.Glu567Gln