Canonical Allele Identifier: CA497694580

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128374G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225055G>C , CM000679.2:g.7225055G>C	GRCh38
NC_000017.10:g.7128374G>C , CM000679.1:g.7128374G>C	GRCh37
NC_000017.9:g.7069098G>C	NCBI36
NG_007975.1:g.10222G>C
NG_033038.1:g.14490C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1926G>C MANE Select	ENSP00000349297.5:p.Val642=
ENST00000322910.9:c.*1881G>C	ENSP00000325395.5:n.*1881G>C
ENST00000350303.9:c.1860G>C	ENSP00000344152.5:p.Val620=
ENST00000356839.9:c.1926G>C	ENSP00000349297.5:p.Val642=
ENST00000542255.6:c.805G>C
ENST00000543245.6:c.1995G>C	ENSP00000438689.2:p.Val665=
ENST00000578033.1:n.351G>C
ENST00000578319.5:n.507G>C
ENST00000578711.1:n.1551G>C
ENST00000578809.5:n.498G>C
ENST00000579425.5:n.1042G>C
ENST00000583848.5:c.292G>C	ENSP00000466487.1:n.292G>C
ENST00000583850.5:n.697G>C
ENST00000583858.5:c.857G>C
NM_000018.3:c.1926G>C	NP_000009.1:p.Val642=
NM_001033859.2:c.1860G>C	NP_001029031.1:p.Val620=
NM_001270447.1:c.1995G>C	NP_001257376.1:p.Val665=
NM_001270448.1:c.1698G>C	NP_001257377.1:p.Val566=
XM_006721516.2:c.1947G>C	XP_006721579.2:p.Val649=
XM_011523829.1:c.1845G>C	XP_011522131.1:p.Val615=
XM_011523830.1:c.1824G>C	XP_011522132.1:p.Val608=
XR_934021.1:n.2029G>C
XR_934022.1:n.1935G>C
XR_934023.1:n.1956G>C
XM_006721516.3:c.1947G>C	XP_006721579.2:p.Val649=
XM_011523829.2:c.1845G>C	XP_011522131.1:p.Val615=
XM_011523830.2:c.1824G>C	XP_011522132.1:p.Val608=
XM_024450741.1:c.1914G>C	XP_024306509.1:p.Val638=
XR_934021.2:n.1981G>C
XR_934022.2:n.1887G>C
XR_934023.2:n.1908G>C
NM_000018.4:c.1926G>C MANE Select	NP_000009.1:p.Val642=
NM_001033859.3:c.1860G>C	NP_001029031.1:p.Val620=
NM_001270447.2:c.1995G>C	NP_001257376.1:p.Val665=
NM_001270448.2:c.1698G>C	NP_001257377.1:p.Val566=