Canonical Allele Identifier: CA397722513

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2775797
• ClinVar RCV Id: RCV003600474
• dbSNP Id: rs2071168428
• gnomAD v3: 17-7220777-G-A
• gnomAD v4: 17-7220777-G-A
• MyVariant Identifiers: chr17:g.7124096G>A (hg19) ; chr17:g.7220777G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220777G>A , CM000679.2:g.7220777G>A	GRCh38
NC_000017.10:g.7124096G>A , CM000679.1:g.7124096G>A	GRCh37
NC_000017.9:g.7064820G>A	NCBI36
NG_007975.1:g.5944G>A
NG_008391.2:g.4274C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.289G>A MANE Select	ENSP00000349297.5:p.Glu97Lys
ENST00000322910.9:c.*244G>A	ENSP00000325395.5:n.*244G>A
ENST00000350303.9:c.223G>A	ENSP00000344152.5:p.Glu75Lys
ENST00000356839.9:c.289G>A	ENSP00000349297.5:p.Glu97Lys
ENST00000543245.6:c.358G>A	ENSP00000438689.2:p.Glu120Lys
ENST00000577191.5:n.366G>A
ENST00000577433.5:n.497G>A
ENST00000577857.5:n.240G>A
ENST00000579286.5:n.470G>A
ENST00000579886.2:c.202-168G>A	ENSP00000463246.1:n.202-168G>A
ENST00000580263.5:n.542G>A
ENST00000580365.1:n.20G>A
ENST00000581562.5:n.336G>A
ENST00000582056.5:n.379G>A
ENST00000582166.1:n.177G>A
ENST00000582356.5:n.488G>A
ENST00000583312.5:c.289G>A	ENSP00000467920.1:p.Glu97Lys
ENST00000584103.5:c.289G>A	ENSP00000465353.1:p.Glu97Lys
NM_000018.3:c.289G>A	NP_000009.1:p.Glu97Lys
NM_001033859.2:c.223G>A	NP_001029031.1:p.Glu75Lys
NM_001270447.1:c.358G>A	NP_001257376.1:p.Glu120Lys
NM_001270448.1:c.61G>A	NP_001257377.1:p.Glu21Lys
XM_006721516.2:c.289G>A	XP_006721579.2:p.Glu97Lys
XM_011523829.1:c.289G>A	XP_011522131.1:p.Glu97Lys
XM_011523830.1:c.289G>A	XP_011522132.1:p.Glu97Lys
XR_934021.1:n.396G>A
XR_934022.1:n.396G>A
XR_934023.1:n.396G>A
XM_006721516.3:c.289G>A	XP_006721579.2:p.Glu97Lys
XM_011523829.2:c.289G>A	XP_011522131.1:p.Glu97Lys
XM_011523830.2:c.289G>A	XP_011522132.1:p.Glu97Lys
XM_024450741.1:c.289G>A	XP_024306509.1:p.Glu97Lys
XR_934021.2:n.348G>A
XR_934022.2:n.348G>A
XR_934023.2:n.348G>A
NM_000018.4:c.289G>A MANE Select	NP_000009.1:p.Glu97Lys
NM_001033859.3:c.223G>A	NP_001029031.1:p.Glu75Lys
NM_001270447.2:c.358G>A	NP_001257376.1:p.Glu120Lys
NM_001270448.2:c.61G>A	NP_001257377.1:p.Glu21Lys