Canonical Allele Identifier: CA497693832

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1540641
• ClinVar RCV Id: RCV002155108
• dbSNP Id: rs2142968911
• MyVariant Identifiers: chr17:g.7124272T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220953T>C , CM000679.2:g.7220953T>C	GRCh38
NC_000017.10:g.7124272T>C , CM000679.1:g.7124272T>C	GRCh37
NC_000017.9:g.7064996T>C	NCBI36
NG_007975.1:g.6120T>C
NG_008391.2:g.4098A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.372T>C MANE Select	ENSP00000349297.5:p.Ala124=
ENST00000322910.9:c.*327T>C	ENSP00000325395.5:n.*327T>C
ENST00000350303.9:c.306T>C	ENSP00000344152.5:p.Ala102=
ENST00000356839.9:c.372T>C	ENSP00000349297.5:p.Ala124=
ENST00000543245.6:c.441T>C	ENSP00000438689.2:p.Ala147=
ENST00000577191.5:n.449T>C
ENST00000577433.5:n.580T>C
ENST00000577857.5:n.293+123T>C
ENST00000579286.5:n.553T>C
ENST00000579886.2:c.210T>C	ENSP00000463246.1:p.Ala70=
ENST00000580365.1:n.103T>C
ENST00000581378.5:c.71T>C
ENST00000581562.5:n.419T>C
ENST00000582056.5:n.555T>C
ENST00000582166.1:n.353T>C
ENST00000583312.5:c.372T>C	ENSP00000467920.1:p.Ala124=
ENST00000584103.5:c.405T>C	ENSP00000465353.1:p.Ala135=
NM_000018.3:c.372T>C	NP_000009.1:p.Ala124=
NM_001033859.2:c.306T>C	NP_001029031.1:p.Ala102=
NM_001270447.1:c.441T>C	NP_001257376.1:p.Ala147=
NM_001270448.1:c.144T>C	NP_001257377.1:p.Ala48=
XM_006721516.2:c.372T>C	XP_006721579.2:p.Ala124=
XM_011523829.1:c.372T>C	XP_011522131.1:p.Ala124=
XM_011523830.1:c.372T>C	XP_011522132.1:p.Ala124=
XR_934021.1:n.479T>C
XR_934022.1:n.479T>C
XR_934023.1:n.479T>C
XM_006721516.3:c.372T>C	XP_006721579.2:p.Ala124=
XM_011523829.2:c.372T>C	XP_011522131.1:p.Ala124=
XM_011523830.2:c.372T>C	XP_011522132.1:p.Ala124=
XM_024450741.1:c.372T>C	XP_024306509.1:p.Ala124=
XR_934021.2:n.431T>C
XR_934022.2:n.431T>C
XR_934023.2:n.431T>C
NM_000018.4:c.372T>C MANE Select	NP_000009.1:p.Ala124=
NM_001033859.3:c.306T>C	NP_001029031.1:p.Ala102=
NM_001270447.2:c.441T>C	NP_001257376.1:p.Ala147=
NM_001270448.2:c.144T>C	NP_001257377.1:p.Ala48=