Canonical Allele Identifier: CA497694568

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128359C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225040C>A , CM000679.2:g.7225040C>A	GRCh38
NC_000017.10:g.7128359C>A , CM000679.1:g.7128359C>A	GRCh37
NC_000017.9:g.7069083C>A	NCBI36
NG_007975.1:g.10207C>A
NG_008391.2:g.11G>T
NG_033038.1:g.14505G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1911C>A MANE Select	ENSP00000349297.5:p.Ile637=
ENST00000322910.9:c.*1866C>A	ENSP00000325395.5:n.*1866C>A
ENST00000350303.9:c.1845C>A	ENSP00000344152.5:p.Ile615=
ENST00000356839.9:c.1911C>A	ENSP00000349297.5:p.Ile637=
ENST00000542255.6:c.790C>A
ENST00000543245.6:c.1980C>A	ENSP00000438689.2:p.Ile660=
ENST00000578033.1:n.336C>A
ENST00000578319.5:n.492C>A
ENST00000578711.1:n.1536C>A
ENST00000578809.5:n.483C>A
ENST00000579425.5:n.1027C>A
ENST00000583848.5:c.277C>A	ENSP00000466487.1:n.277C>A
ENST00000583850.5:n.682C>A
ENST00000583858.5:c.842C>A
NM_000018.3:c.1911C>A	NP_000009.1:p.Ile637=
NM_001033859.2:c.1845C>A	NP_001029031.1:p.Ile615=
NM_001270447.1:c.1980C>A	NP_001257376.1:p.Ile660=
NM_001270448.1:c.1683C>A	NP_001257377.1:p.Ile561=
XM_006721516.2:c.1932C>A	XP_006721579.2:p.Ile644=
XM_011523829.1:c.1830C>A	XP_011522131.1:p.Ile610=
XM_011523830.1:c.1809C>A	XP_011522132.1:p.Ile603=
XR_934021.1:n.2014C>A
XR_934022.1:n.1920C>A
XR_934023.1:n.1941C>A
XM_006721516.3:c.1932C>A	XP_006721579.2:p.Ile644=
XM_011523829.2:c.1830C>A	XP_011522131.1:p.Ile610=
XM_011523830.2:c.1809C>A	XP_011522132.1:p.Ile603=
XM_024450741.1:c.1899C>A	XP_024306509.1:p.Ile633=
XR_934021.2:n.1966C>A
XR_934022.2:n.1872C>A
XR_934023.2:n.1893C>A
NM_000018.4:c.1911C>A MANE Select	NP_000009.1:p.Ile637=
NM_001033859.3:c.1845C>A	NP_001029031.1:p.Ile615=
NM_001270447.2:c.1980C>A	NP_001257376.1:p.Ile660=
NM_001270448.2:c.1683C>A	NP_001257377.1:p.Ile561=