Canonical Allele Identifier: CA8338302

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 514267
• ClinVar RCV Id: RCV000616680 ; RCV001465911 ; RCV004024972
• dbSNP Id: rs373898227
• ExAC: 17:7128314 G / A
• gnomAD v2: 17-7128314-G-A
• gnomAD v3: 17-7224995-G-A
• gnomAD v4: 17-7224995-G-A
• MyVariant Identifiers: chr17:g.7128314G>A (hg19) ; chr17:g.7224995G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224995G>A , CM000679.2:g.7224995G>A	GRCh38
NC_000017.10:g.7128314G>A , CM000679.1:g.7128314G>A	GRCh37
NC_000017.9:g.7069038G>A	NCBI36
NG_007975.1:g.10162G>A
NG_008391.2:g.56C>T
NG_033038.1:g.14550C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1866G>A MANE Select	ENSP00000349297.5:p.Gln622=
ENST00000322910.9:c.*1821G>A	ENSP00000325395.5:n.*1821G>A
ENST00000350303.9:c.1800G>A	ENSP00000344152.5:p.Gln600=
ENST00000356839.9:c.1866G>A	ENSP00000349297.5:p.Gln622=
ENST00000542255.6:c.745G>A
ENST00000543245.6:c.1935G>A	ENSP00000438689.2:p.Gln645=
ENST00000578033.1:n.291G>A
ENST00000578319.5:n.447G>A
ENST00000578711.1:n.1491G>A
ENST00000578809.5:n.438G>A
ENST00000579425.5:n.982G>A
ENST00000583848.5:c.232G>A	ENSP00000466487.1:n.232G>A
ENST00000583850.5:n.637G>A
ENST00000583858.5:c.797G>A
NM_000018.3:c.1866G>A	NP_000009.1:p.Gln622=
NM_001033859.2:c.1800G>A	NP_001029031.1:p.Gln600=
NM_001270447.1:c.1935G>A	NP_001257376.1:p.Gln645=
NM_001270448.1:c.1638G>A	NP_001257377.1:p.Gln546=
XM_006721516.2:c.1887G>A	XP_006721579.2:p.Gln629=
XM_011523829.1:c.1785G>A	XP_011522131.1:p.Gln595=
XM_011523830.1:c.1764G>A	XP_011522132.1:p.Gln588=
XR_934021.1:n.1969G>A
XR_934022.1:n.1875G>A
XR_934023.1:n.1896G>A
XM_006721516.3:c.1887G>A	XP_006721579.2:p.Gln629=
XM_011523829.2:c.1785G>A	XP_011522131.1:p.Gln595=
XM_011523830.2:c.1764G>A	XP_011522132.1:p.Gln588=
XM_024450741.1:c.1854G>A	XP_024306509.1:p.Gln618=
XR_934021.2:n.1921G>A
XR_934022.2:n.1827G>A
XR_934023.2:n.1848G>A
NM_000018.4:c.1866G>A MANE Select	NP_000009.1:p.Gln622=
NM_001033859.3:c.1800G>A	NP_001029031.1:p.Gln600=
NM_001270447.2:c.1935G>A	NP_001257376.1:p.Gln645=
NM_001270448.2:c.1638G>A	NP_001257377.1:p.Gln546=