Canonical Allele Identifier: CA497694160

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1991579
• ClinVar RCV Id: RCV002790727
• MyVariant Identifiers: chr17:g.7127140C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223821C>T , CM000679.2:g.7223821C>T	GRCh38
NC_000017.10:g.7127140C>T , CM000679.1:g.7127140C>T	GRCh37
NC_000017.9:g.7067864C>T	NCBI36
NG_007975.1:g.8988C>T
NG_008391.2:g.1230G>A
NG_033038.1:g.15724G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1278C>T MANE Select	ENSP00000349297.5:p.Ala426=
ENST00000322910.9:c.*1233C>T	ENSP00000325395.5:n.*1233C>T
ENST00000350303.9:c.1212C>T	ENSP00000344152.5:p.Ala404=
ENST00000356839.9:c.1278C>T	ENSP00000349297.5:p.Ala426=
ENST00000542255.6:c.136C>T
ENST00000543245.6:c.1347C>T	ENSP00000438689.2:p.Ala449=
ENST00000578579.2:n.449C>T
ENST00000578711.1:n.317C>T
ENST00000578824.5:n.694C>T
ENST00000579425.5:n.302C>T
ENST00000579546.1:c.115C>T
ENST00000583850.5:n.53C>T
ENST00000583858.5:c.307C>T
ENST00000585203.6:n.486C>T
NM_000018.3:c.1278C>T	NP_000009.1:p.Ala426=
NM_001033859.2:c.1212C>T	NP_001029031.1:p.Ala404=
NM_001270447.1:c.1347C>T	NP_001257376.1:p.Ala449=
NM_001270448.1:c.1050C>T	NP_001257377.1:p.Ala350=
XM_006721516.2:c.1278C>T	XP_006721579.2:p.Ala426=
XM_011523829.1:c.1278C>T	XP_011522131.1:p.Ala426=
XM_011523830.1:c.1278C>T	XP_011522132.1:p.Ala426=
XR_934021.1:n.1385C>T
XR_934022.1:n.1385C>T
XR_934023.1:n.1385C>T
XM_006721516.3:c.1278C>T	XP_006721579.2:p.Ala426=
XM_011523829.2:c.1278C>T	XP_011522131.1:p.Ala426=
XM_011523830.2:c.1278C>T	XP_011522132.1:p.Ala426=
XM_024450741.1:c.1278C>T	XP_024306509.1:p.Ala426=
XR_934021.2:n.1337C>T
XR_934022.2:n.1337C>T
XR_934023.2:n.1337C>T
NM_000018.4:c.1278C>T MANE Select	NP_000009.1:p.Ala426=
NM_001033859.3:c.1212C>T	NP_001029031.1:p.Ala404=
NM_001270447.2:c.1347C>T	NP_001257376.1:p.Ala449=
NM_001270448.2:c.1050C>T	NP_001257377.1:p.Ala350=