Canonical Allele Identifier: CA8338294

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 474893
• ClinVar RCV Id: RCV000527141
• dbSNP Id: rs374898424
• ExAC: 17:7128283 C / G
• gnomAD v2: 17-7128283-C-G
• gnomAD v3: 17-7224964-C-G
• gnomAD v4: 17-7224964-C-G
• MyVariant Identifiers: chr17:g.7128283C>G (hg19) ; chr17:g.7224964C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224964C>G , CM000679.2:g.7224964C>G	GRCh38
NC_000017.10:g.7128283C>G , CM000679.1:g.7128283C>G	GRCh37
NC_000017.9:g.7069007C>G	NCBI36
NG_007975.1:g.10131C>G
NG_008391.2:g.87G>C
NG_033038.1:g.14581G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1835C>G MANE Select	ENSP00000349297.5:p.Ala612Gly
ENST00000322910.9:c.*1790C>G	ENSP00000325395.5:n.*1790C>G
ENST00000350303.9:c.1769C>G	ENSP00000344152.5:p.Ala590Gly
ENST00000356839.9:c.1835C>G	ENSP00000349297.5:p.Ala612Gly
ENST00000542255.6:c.714C>G
ENST00000543245.6:c.1904C>G	ENSP00000438689.2:p.Ala635Gly
ENST00000578033.1:n.260C>G
ENST00000578319.5:n.416C>G
ENST00000578711.1:n.1460C>G
ENST00000578809.5:n.407C>G
ENST00000579425.5:n.951C>G
ENST00000579546.1:c.570C>G
ENST00000583848.5:c.201C>G	ENSP00000466487.1:n.201C>G
ENST00000583850.5:n.606C>G
ENST00000583858.5:c.766C>G
NM_000018.3:c.1835C>G	NP_000009.1:p.Ala612Gly
NM_001033859.2:c.1769C>G	NP_001029031.1:p.Ala590Gly
NM_001270447.1:c.1904C>G	NP_001257376.1:p.Ala635Gly
NM_001270448.1:c.1607C>G	NP_001257377.1:p.Ala536Gly
XM_006721516.2:c.1856C>G	XP_006721579.2:p.Ala619Gly
XM_011523829.1:c.1754C>G	XP_011522131.1:p.Ala585Gly
XM_011523830.1:c.1733C>G	XP_011522132.1:p.Ala578Gly
XR_934021.1:n.1938C>G
XR_934022.1:n.1844C>G
XR_934023.1:n.1865C>G
XM_006721516.3:c.1856C>G	XP_006721579.2:p.Ala619Gly
XM_011523829.2:c.1754C>G	XP_011522131.1:p.Ala585Gly
XM_011523830.2:c.1733C>G	XP_011522132.1:p.Ala578Gly
XM_024450741.1:c.1823C>G	XP_024306509.1:p.Ala608Gly
XR_934021.2:n.1890C>G
XR_934022.2:n.1796C>G
XR_934023.2:n.1817C>G
NM_000018.4:c.1835C>G MANE Select	NP_000009.1:p.Ala612Gly
NM_001033859.3:c.1769C>G	NP_001029031.1:p.Ala590Gly
NM_001270447.2:c.1904C>G	NP_001257376.1:p.Ala635Gly
NM_001270448.2:c.1607C>G	NP_001257377.1:p.Ala536Gly