Canonical Allele Identifier: CA285290

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 92278
• ClinVar RCV Id: RCV000259048 ; RCV000813614
• dbSNP Id: rs398123084
• ExAC: 17:7127982 G / A
• gnomAD v2: 17-7127982-G-A
• gnomAD v3: 17-7224663-G-A
• gnomAD v4: 17-7224663-G-A
• MyVariant Identifiers: chr17:g.7127982G>A (hg19) ; chr17:g.7224663G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224663G>A , CM000679.2:g.7224663G>A	GRCh38
NC_000017.10:g.7127982G>A , CM000679.1:g.7127982G>A	GRCh37
NC_000017.9:g.7068706G>A	NCBI36
NG_007975.1:g.9830G>A
NG_008391.2:g.388C>T
NG_033038.1:g.14882C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1700G>A MANE Select	ENSP00000349297.5:p.Arg567Gln
ENST00000322910.9:c.*1655G>A	ENSP00000325395.5:n.*1655G>A
ENST00000350303.9:c.1634G>A	ENSP00000344152.5:p.Arg545Gln
ENST00000356839.9:c.1700G>A	ENSP00000349297.5:p.Arg567Gln
ENST00000542255.6:c.537-52G>A
ENST00000543245.6:c.1769G>A	ENSP00000438689.2:p.Arg590Gln
ENST00000578033.1:n.31G>A
ENST00000578319.5:n.281G>A
ENST00000578711.1:n.1159G>A
ENST00000578809.5:n.272G>A
ENST00000579425.5:n.816G>A
ENST00000579546.1:c.435G>A
ENST00000583074.5:n.300-52G>A
ENST00000583848.5:c.66G>A	ENSP00000466487.1:p.Thr22=
ENST00000583850.5:n.471G>A
ENST00000583858.5:c.631G>A
ENST00000585203.6:n.891G>A
NM_000018.3:c.1700G>A	NP_000009.1:p.Arg567Gln
NM_001033859.2:c.1634G>A	NP_001029031.1:p.Arg545Gln
NM_001270447.1:c.1769G>A	NP_001257376.1:p.Arg590Gln
NM_001270448.1:c.1472G>A	NP_001257377.1:p.Arg491Gln
XM_006721516.2:c.1679-52G>A	XP_006721579.2:n.1679-52G>A
XM_011523829.1:c.1577-52G>A	XP_011522131.1:n.1577-52G>A
XM_011523830.1:c.1598G>A	XP_011522132.1:p.Arg533Gln
XR_934021.1:n.1803G>A
XR_934022.1:n.1709G>A
XR_934023.1:n.1688-52G>A
XM_006721516.3:c.1679-52G>A	XP_006721579.2:n.1679-52G>A
XM_011523829.2:c.1577-52G>A	XP_011522131.1:n.1577-52G>A
XM_011523830.2:c.1598G>A	XP_011522132.1:p.Arg533Gln
XM_024450741.1:c.1688G>A	XP_024306509.1:p.Arg563Gln
XR_934021.2:n.1755G>A
XR_934022.2:n.1661G>A
XR_934023.2:n.1640-52G>A
NM_000018.4:c.1700G>A MANE Select	NP_000009.1:p.Arg567Gln
NM_001033859.3:c.1634G>A	NP_001029031.1:p.Arg545Gln
NM_001270447.2:c.1769G>A	NP_001257376.1:p.Arg590Gln
NM_001270448.2:c.1472G>A	NP_001257377.1:p.Arg491Gln