Canonical Allele Identifier: CA397722701

Gene: ACADVL

Linked Data

• dbSNP Id: rs1567561831
• MyVariant Identifiers: chr17:g.7124244A>C (hg19) ; chr17:g.7220925A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220925A>C , CM000679.2:g.7220925A>C	GRCh38
NC_000017.10:g.7124244A>C , CM000679.1:g.7124244A>C	GRCh37
NC_000017.9:g.7064968A>C	NCBI36
NG_007975.1:g.6092A>C
NG_008391.2:g.4126T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.344A>C MANE Select	ENSP00000349297.5:p.Glu115Ala
ENST00000322910.9:c.*299A>C	ENSP00000325395.5:n.*299A>C
ENST00000350303.9:c.278A>C	ENSP00000344152.5:p.Glu93Ala
ENST00000356839.9:c.344A>C	ENSP00000349297.5:p.Glu115Ala
ENST00000543245.6:c.413A>C	ENSP00000438689.2:p.Glu138Ala
ENST00000577191.5:n.421A>C
ENST00000577433.5:n.552A>C
ENST00000577857.5:n.293+95A>C
ENST00000579286.5:n.525A>C
ENST00000579886.2:c.202-20A>C	ENSP00000463246.1:n.202-20A>C
ENST00000580365.1:n.75A>C
ENST00000581378.5:c.43A>C
ENST00000581562.5:n.391A>C
ENST00000582056.5:n.527A>C
ENST00000582166.1:n.325A>C
ENST00000583312.5:c.344A>C	ENSP00000467920.1:p.Glu115Ala
ENST00000584103.5:c.377A>C	ENSP00000465353.1:p.Glu126Ala
NM_000018.3:c.344A>C	NP_000009.1:p.Glu115Ala
NM_001033859.2:c.278A>C	NP_001029031.1:p.Glu93Ala
NM_001270447.1:c.413A>C	NP_001257376.1:p.Glu138Ala
NM_001270448.1:c.116A>C	NP_001257377.1:p.Glu39Ala
XM_006721516.2:c.344A>C	XP_006721579.2:p.Glu115Ala
XM_011523829.1:c.344A>C	XP_011522131.1:p.Glu115Ala
XM_011523830.1:c.344A>C	XP_011522132.1:p.Glu115Ala
XR_934021.1:n.451A>C
XR_934022.1:n.451A>C
XR_934023.1:n.451A>C
XM_006721516.3:c.344A>C	XP_006721579.2:p.Glu115Ala
XM_011523829.2:c.344A>C	XP_011522131.1:p.Glu115Ala
XM_011523830.2:c.344A>C	XP_011522132.1:p.Glu115Ala
XM_024450741.1:c.344A>C	XP_024306509.1:p.Glu115Ala
XR_934021.2:n.403A>C
XR_934022.2:n.403A>C
XR_934023.2:n.403A>C
NM_000018.4:c.344A>C MANE Select	NP_000009.1:p.Glu115Ala
NM_001033859.3:c.278A>C	NP_001029031.1:p.Glu93Ala
NM_001270447.2:c.413A>C	NP_001257376.1:p.Glu138Ala
NM_001270448.2:c.116A>C	NP_001257377.1:p.Glu39Ala