Canonical Allele Identifier: CA397726141

Gene: ACADVL

Linked Data

• dbSNP Id: rs1259303157
• gnomAD v4: 17-7225032-A-G
• MyVariant Identifiers: chr17:g.7128351A>G (hg19) ; chr17:g.7225032A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225032A>G , CM000679.2:g.7225032A>G	GRCh38
NC_000017.10:g.7128351A>G , CM000679.1:g.7128351A>G	GRCh37
NC_000017.9:g.7069075A>G	NCBI36
NG_007975.1:g.10199A>G
NG_008391.2:g.19T>C
NG_033038.1:g.14513T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1903A>G MANE Select	ENSP00000349297.5:p.Lys635Glu
ENST00000322910.9:c.*1858A>G	ENSP00000325395.5:n.*1858A>G
ENST00000350303.9:c.1837A>G	ENSP00000344152.5:p.Lys613Glu
ENST00000356839.9:c.1903A>G	ENSP00000349297.5:p.Lys635Glu
ENST00000542255.6:c.782A>G
ENST00000543245.6:c.1972A>G	ENSP00000438689.2:p.Lys658Glu
ENST00000578033.1:n.328A>G
ENST00000578319.5:n.484A>G
ENST00000578711.1:n.1528A>G
ENST00000578809.5:n.475A>G
ENST00000579425.5:n.1019A>G
ENST00000583848.5:c.269A>G	ENSP00000466487.1:n.269A>G
ENST00000583850.5:n.674A>G
ENST00000583858.5:c.834A>G
NM_000018.3:c.1903A>G	NP_000009.1:p.Lys635Glu
NM_001033859.2:c.1837A>G	NP_001029031.1:p.Lys613Glu
NM_001270447.1:c.1972A>G	NP_001257376.1:p.Lys658Glu
NM_001270448.1:c.1675A>G	NP_001257377.1:p.Lys559Glu
XM_006721516.2:c.1924A>G	XP_006721579.2:p.Lys642Glu
XM_011523829.1:c.1822A>G	XP_011522131.1:p.Lys608Glu
XM_011523830.1:c.1801A>G	XP_011522132.1:p.Lys601Glu
XR_934021.1:n.2006A>G
XR_934022.1:n.1912A>G
XR_934023.1:n.1933A>G
XM_006721516.3:c.1924A>G	XP_006721579.2:p.Lys642Glu
XM_011523829.2:c.1822A>G	XP_011522131.1:p.Lys608Glu
XM_011523830.2:c.1801A>G	XP_011522132.1:p.Lys601Glu
XM_024450741.1:c.1891A>G	XP_024306509.1:p.Lys631Glu
XR_934021.2:n.1958A>G
XR_934022.2:n.1864A>G
XR_934023.2:n.1885A>G
NM_000018.4:c.1903A>G MANE Select	NP_000009.1:p.Lys635Glu
NM_001033859.3:c.1837A>G	NP_001029031.1:p.Lys613Glu
NM_001270447.2:c.1972A>G	NP_001257376.1:p.Lys658Glu
NM_001270448.2:c.1675A>G	NP_001257377.1:p.Lys559Glu