Canonical Allele Identifier: CA8337748

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932863
• ClinVar RCV Id: RCV001200823
• dbSNP Id: rs199991742
• ExAC: 17:7124878 G / A
• gnomAD v2: 17-7124878-G-A
• gnomAD v3: 17-7221559-G-A
• gnomAD v4: 17-7221559-G-A
• MyVariant Identifiers: chr17:g.7124878G>A (hg19) ; chr17:g.7221559G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221559G>A , CM000679.2:g.7221559G>A	GRCh38
NC_000017.10:g.7124878G>A , CM000679.1:g.7124878G>A	GRCh37
NC_000017.9:g.7065602G>A	NCBI36
NG_007975.1:g.6726G>A
NG_008391.2:g.3492C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.499G>A MANE Select	ENSP00000349297.5:p.Val167Met
ENST00000322910.9:c.*454G>A	ENSP00000325395.5:n.*454G>A
ENST00000350303.9:c.433G>A	ENSP00000344152.5:p.Val145Met
ENST00000356839.9:c.499G>A	ENSP00000349297.5:p.Val167Met
ENST00000543245.6:c.568G>A	ENSP00000438689.2:p.Val190Met
ENST00000577191.5:n.576G>A
ENST00000577433.5:n.707G>A
ENST00000577857.5:n.315G>A
ENST00000579286.5:n.680G>A
ENST00000579886.2:c.337G>A	ENSP00000463246.1:p.Val113Met
ENST00000580365.1:n.230G>A
ENST00000581378.5:c.217G>A
ENST00000581562.5:n.525-393G>A
ENST00000582166.1:n.480G>A
ENST00000583312.5:c.499G>A	ENSP00000467920.1:p.Val167Met
ENST00000583760.1:n.281G>A
NM_000018.3:c.499G>A	NP_000009.1:p.Val167Met
NM_001033859.2:c.433G>A	NP_001029031.1:p.Val145Met
NM_001270447.1:c.568G>A	NP_001257376.1:p.Val190Met
NM_001270448.1:c.271G>A	NP_001257377.1:p.Val91Met
XM_006721516.2:c.499G>A	XP_006721579.2:p.Val167Met
XM_011523829.1:c.499G>A	XP_011522131.1:p.Val167Met
XM_011523830.1:c.499G>A	XP_011522132.1:p.Val167Met
XR_934021.1:n.606G>A
XR_934022.1:n.606G>A
XR_934023.1:n.606G>A
XM_006721516.3:c.499G>A	XP_006721579.2:p.Val167Met
XM_011523829.2:c.499G>A	XP_011522131.1:p.Val167Met
XM_011523830.2:c.499G>A	XP_011522132.1:p.Val167Met
XM_024450741.1:c.499G>A	XP_024306509.1:p.Val167Met
XR_934021.2:n.558G>A
XR_934022.2:n.558G>A
XR_934023.2:n.558G>A
NM_000018.4:c.499G>A MANE Select	NP_000009.1:p.Val167Met
NM_001033859.3:c.433G>A	NP_001029031.1:p.Val145Met
NM_001270447.2:c.568G>A	NP_001257376.1:p.Val190Met
NM_001270448.2:c.271G>A	NP_001257377.1:p.Val91Met