Canonical Allele Identifier: CA497694545

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128308C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224989C>A , CM000679.2:g.7224989C>A	GRCh38
NC_000017.10:g.7128308C>A , CM000679.1:g.7128308C>A	GRCh37
NC_000017.9:g.7069032C>A	NCBI36
NG_007975.1:g.10156C>A
NG_008391.2:g.62G>T
NG_033038.1:g.14556G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1860C>A MANE Select	ENSP00000349297.5:p.Ala620=
ENST00000322910.9:c.*1815C>A	ENSP00000325395.5:n.*1815C>A
ENST00000350303.9:c.1794C>A	ENSP00000344152.5:p.Ala598=
ENST00000356839.9:c.1860C>A	ENSP00000349297.5:p.Ala620=
ENST00000542255.6:c.739C>A
ENST00000543245.6:c.1929C>A	ENSP00000438689.2:p.Ala643=
ENST00000578033.1:n.285C>A
ENST00000578319.5:n.441C>A
ENST00000578711.1:n.1485C>A
ENST00000578809.5:n.432C>A
ENST00000579425.5:n.976C>A
ENST00000583848.5:c.226C>A	ENSP00000466487.1:n.226C>A
ENST00000583850.5:n.631C>A
ENST00000583858.5:c.791C>A
NM_000018.3:c.1860C>A	NP_000009.1:p.Ala620=
NM_001033859.2:c.1794C>A	NP_001029031.1:p.Ala598=
NM_001270447.1:c.1929C>A	NP_001257376.1:p.Ala643=
NM_001270448.1:c.1632C>A	NP_001257377.1:p.Ala544=
XM_006721516.2:c.1881C>A	XP_006721579.2:p.Ala627=
XM_011523829.1:c.1779C>A	XP_011522131.1:p.Ala593=
XM_011523830.1:c.1758C>A	XP_011522132.1:p.Ala586=
XR_934021.1:n.1963C>A
XR_934022.1:n.1869C>A
XR_934023.1:n.1890C>A
XM_006721516.3:c.1881C>A	XP_006721579.2:p.Ala627=
XM_011523829.2:c.1779C>A	XP_011522131.1:p.Ala593=
XM_011523830.2:c.1758C>A	XP_011522132.1:p.Ala586=
XM_024450741.1:c.1848C>A	XP_024306509.1:p.Ala616=
XR_934021.2:n.1915C>A
XR_934022.2:n.1821C>A
XR_934023.2:n.1842C>A
NM_000018.4:c.1860C>A MANE Select	NP_000009.1:p.Ala620=
NM_001033859.3:c.1794C>A	NP_001029031.1:p.Ala598=
NM_001270447.2:c.1929C>A	NP_001257376.1:p.Ala643=
NM_001270448.2:c.1632C>A	NP_001257377.1:p.Ala544=