Canonical Allele Identifier: CA397723028

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1707711
• ClinVar RCV Id: RCV002286690
• MyVariant Identifiers: chr17:g.7124873A>T (hg19) ; chr17:g.7221554A>T (hg38)
• ERepo: CA397723028/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221554A>T , CM000679.2:g.7221554A>T	GRCh38
NC_000017.10:g.7124873A>T , CM000679.1:g.7124873A>T	GRCh37
NC_000017.9:g.7065597A>T	NCBI36
NG_007975.1:g.6721A>T
NG_008391.2:g.3497T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.494A>T MANE Select	ENSP00000349297.5:p.Glu165Val
ENST00000322910.9:c.*449A>T	ENSP00000325395.5:n.*449A>T
ENST00000350303.9:c.428A>T	ENSP00000344152.5:p.Glu143Val
ENST00000356839.9:c.494A>T	ENSP00000349297.5:p.Glu165Val
ENST00000543245.6:c.563A>T	ENSP00000438689.2:p.Glu188Val
ENST00000577191.5:n.571A>T
ENST00000577433.5:n.702A>T
ENST00000577857.5:n.310A>T
ENST00000579286.5:n.675A>T
ENST00000579886.2:c.332A>T	ENSP00000463246.1:p.Glu111Val
ENST00000580365.1:n.225A>T
ENST00000581378.5:c.212A>T
ENST00000581562.5:n.525-398A>T
ENST00000582166.1:n.475A>T
ENST00000583312.5:c.494A>T	ENSP00000467920.1:p.Glu165Val
ENST00000583760.1:n.276A>T
NM_000018.3:c.494A>T	NP_000009.1:p.Glu165Val
NM_001033859.2:c.428A>T	NP_001029031.1:p.Glu143Val
NM_001270447.1:c.563A>T	NP_001257376.1:p.Glu188Val
NM_001270448.1:c.266A>T	NP_001257377.1:p.Glu89Val
XM_006721516.2:c.494A>T	XP_006721579.2:p.Glu165Val
XM_011523829.1:c.494A>T	XP_011522131.1:p.Glu165Val
XM_011523830.1:c.494A>T	XP_011522132.1:p.Glu165Val
XR_934021.1:n.601A>T
XR_934022.1:n.601A>T
XR_934023.1:n.601A>T
XM_006721516.3:c.494A>T	XP_006721579.2:p.Glu165Val
XM_011523829.2:c.494A>T	XP_011522131.1:p.Glu165Val
XM_011523830.2:c.494A>T	XP_011522132.1:p.Glu165Val
XM_024450741.1:c.494A>T	XP_024306509.1:p.Glu165Val
XR_934021.2:n.553A>T
XR_934022.2:n.553A>T
XR_934023.2:n.553A>T
NM_000018.4:c.494A>T MANE Select	NP_000009.1:p.Glu165Val
NM_001033859.3:c.428A>T	NP_001029031.1:p.Glu143Val
NM_001270447.2:c.563A>T	NP_001257376.1:p.Glu188Val
NM_001270448.2:c.266A>T	NP_001257377.1:p.Glu89Val