Canonical Allele Identifier: CA497694579

Gene: ACADVL

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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