Canonical Allele Identifier: CA497694522

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128284T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224965T>C , CM000679.2:g.7224965T>C	GRCh38
NC_000017.10:g.7128284T>C , CM000679.1:g.7128284T>C	GRCh37
NC_000017.9:g.7069008T>C	NCBI36
NG_007975.1:g.10132T>C
NG_008391.2:g.86A>G
NG_033038.1:g.14580A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1836T>C MANE Select	ENSP00000349297.5:p.Ala612=
ENST00000322910.9:c.*1791T>C	ENSP00000325395.5:n.*1791T>C
ENST00000350303.9:c.1770T>C	ENSP00000344152.5:p.Ala590=
ENST00000356839.9:c.1836T>C	ENSP00000349297.5:p.Ala612=
ENST00000542255.6:c.715T>C
ENST00000543245.6:c.1905T>C	ENSP00000438689.2:p.Ala635=
ENST00000578033.1:n.261T>C
ENST00000578319.5:n.417T>C
ENST00000578711.1:n.1461T>C
ENST00000578809.5:n.408T>C
ENST00000579425.5:n.952T>C
ENST00000579546.1:c.571T>C
ENST00000583848.5:c.202T>C	ENSP00000466487.1:n.202T>C
ENST00000583850.5:n.607T>C
ENST00000583858.5:c.767T>C
NM_000018.3:c.1836T>C	NP_000009.1:p.Ala612=
NM_001033859.2:c.1770T>C	NP_001029031.1:p.Ala590=
NM_001270447.1:c.1905T>C	NP_001257376.1:p.Ala635=
NM_001270448.1:c.1608T>C	NP_001257377.1:p.Ala536=
XM_006721516.2:c.1857T>C	XP_006721579.2:p.Ala619=
XM_011523829.1:c.1755T>C	XP_011522131.1:p.Ala585=
XM_011523830.1:c.1734T>C	XP_011522132.1:p.Ala578=
XR_934021.1:n.1939T>C
XR_934022.1:n.1845T>C
XR_934023.1:n.1866T>C
XM_006721516.3:c.1857T>C	XP_006721579.2:p.Ala619=
XM_011523829.2:c.1755T>C	XP_011522131.1:p.Ala585=
XM_011523830.2:c.1734T>C	XP_011522132.1:p.Ala578=
XM_024450741.1:c.1824T>C	XP_024306509.1:p.Ala608=
XR_934021.2:n.1891T>C
XR_934022.2:n.1797T>C
XR_934023.2:n.1818T>C
NM_000018.4:c.1836T>C MANE Select	NP_000009.1:p.Ala612=
NM_001033859.3:c.1770T>C	NP_001029031.1:p.Ala590=
NM_001270447.2:c.1905T>C	NP_001257376.1:p.Ala635=
NM_001270448.2:c.1608T>C	NP_001257377.1:p.Ala536=