Canonical Allele Identifier: CA497693887

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2183464
• ClinVar RCV Id: RCV002599627
• gnomAD v4: 17-7221016-A-G
• MyVariant Identifiers: chr17:g.7124335A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221016A>G , CM000679.2:g.7221016A>G	GRCh38
NC_000017.10:g.7124335A>G , CM000679.1:g.7124335A>G	GRCh37
NC_000017.9:g.7065059A>G	NCBI36
NG_007975.1:g.6183A>G
NG_008391.2:g.4035T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.435A>G MANE Select	ENSP00000349297.5:p.Gln145=
ENST00000322910.9:c.*390A>G	ENSP00000325395.5:n.*390A>G
ENST00000350303.9:c.369A>G	ENSP00000344152.5:p.Gln123=
ENST00000356839.9:c.435A>G	ENSP00000349297.5:p.Gln145=
ENST00000543245.6:c.504A>G	ENSP00000438689.2:p.Gln168=
ENST00000577191.5:n.512A>G
ENST00000577433.5:n.643A>G
ENST00000577857.5:n.293+186A>G
ENST00000579286.5:n.616A>G
ENST00000579886.2:c.273A>G	ENSP00000463246.1:p.Gln91=
ENST00000580365.1:n.166A>G
ENST00000581378.5:c.134A>G
ENST00000581562.5:n.482A>G
ENST00000582056.5:n.618A>G
ENST00000582166.1:n.416A>G
ENST00000583312.5:c.435A>G	ENSP00000467920.1:p.Gln145=
ENST00000584103.5:c.468A>G	ENSP00000465353.1:p.Gln156=
NM_000018.3:c.435A>G	NP_000009.1:p.Gln145=
NM_001033859.2:c.369A>G	NP_001029031.1:p.Gln123=
NM_001270447.1:c.504A>G	NP_001257376.1:p.Gln168=
NM_001270448.1:c.207A>G	NP_001257377.1:p.Gln69=
XM_006721516.2:c.435A>G	XP_006721579.2:p.Gln145=
XM_011523829.1:c.435A>G	XP_011522131.1:p.Gln145=
XM_011523830.1:c.435A>G	XP_011522132.1:p.Gln145=
XR_934021.1:n.542A>G
XR_934022.1:n.542A>G
XR_934023.1:n.542A>G
XM_006721516.3:c.435A>G	XP_006721579.2:p.Gln145=
XM_011523829.2:c.435A>G	XP_011522131.1:p.Gln145=
XM_011523830.2:c.435A>G	XP_011522132.1:p.Gln145=
XM_024450741.1:c.435A>G	XP_024306509.1:p.Gln145=
XR_934021.2:n.494A>G
XR_934022.2:n.494A>G
XR_934023.2:n.494A>G
NM_000018.4:c.435A>G MANE Select	NP_000009.1:p.Gln145=
NM_001033859.3:c.369A>G	NP_001029031.1:p.Gln123=
NM_001270447.2:c.504A>G	NP_001257376.1:p.Gln168=
NM_001270448.2:c.207A>G	NP_001257377.1:p.Gln69=