Canonical Allele Identifier: CA497693792

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1666118
• ClinVar RCV Id: RCV002186156
• dbSNP Id: rs113891941
• MyVariant Identifiers: chr17:g.7124961A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221642A>C , CM000679.2:g.7221642A>C	GRCh38
NC_000017.10:g.7124961A>C , CM000679.1:g.7124961A>C	GRCh37
NC_000017.9:g.7065685A>C	NCBI36
NG_007975.1:g.6809A>C
NG_008391.2:g.3409T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.582A>C MANE Select	ENSP00000349297.5:p.Thr194=
ENST00000322910.9:c.*537A>C	ENSP00000325395.5:n.*537A>C
ENST00000350303.9:c.516A>C	ENSP00000344152.5:p.Thr172=
ENST00000356839.9:c.582A>C	ENSP00000349297.5:p.Thr194=
ENST00000543245.6:c.651A>C	ENSP00000438689.2:p.Thr217=
ENST00000577191.5:n.659A>C
ENST00000577433.5:n.790A>C
ENST00000577857.5:n.398A>C
ENST00000579286.5:n.763A>C
ENST00000579886.2:c.420A>C	ENSP00000463246.1:p.Thr140=
ENST00000580365.1:n.313A>C
ENST00000581378.5:c.300A>C
ENST00000581562.5:n.525-310A>C
ENST00000583312.5:c.582A>C	ENSP00000467920.1:p.Thr194=
ENST00000583760.1:n.364A>C
NM_000018.3:c.582A>C	NP_000009.1:p.Thr194=
NM_001033859.2:c.516A>C	NP_001029031.1:p.Thr172=
NM_001270447.1:c.651A>C	NP_001257376.1:p.Thr217=
NM_001270448.1:c.354A>C	NP_001257377.1:p.Thr118=
XM_006721516.2:c.582A>C	XP_006721579.2:p.Thr194=
XM_011523829.1:c.582A>C	XP_011522131.1:p.Thr194=
XM_011523830.1:c.582A>C	XP_011522132.1:p.Thr194=
XR_934021.1:n.689A>C
XR_934022.1:n.689A>C
XR_934023.1:n.689A>C
XM_006721516.3:c.582A>C	XP_006721579.2:p.Thr194=
XM_011523829.2:c.582A>C	XP_011522131.1:p.Thr194=
XM_011523830.2:c.582A>C	XP_011522132.1:p.Thr194=
XM_024450741.1:c.582A>C	XP_024306509.1:p.Thr194=
XR_934021.2:n.641A>C
XR_934022.2:n.641A>C
XR_934023.2:n.641A>C
NM_000018.4:c.582A>C MANE Select	NP_000009.1:p.Thr194=
NM_001033859.3:c.516A>C	NP_001029031.1:p.Thr172=
NM_001270447.2:c.651A>C	NP_001257376.1:p.Thr217=
NM_001270448.2:c.354A>C	NP_001257377.1:p.Thr118=