Canonical Allele Identifier: CA397726143

Gene: ACADVL

Linked Data

• dbSNP Id: rs1259303157
• gnomAD v2: 17-7128351-A-C
• gnomAD v4: 17-7225032-A-C
• MyVariant Identifiers: chr17:g.7128351A>C (hg19) ; chr17:g.7225032A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1903A>C MANE Select	ENSP00000349297.5:p.Lys635Gln
ENST00000322910.9:c.*1858A>C	ENSP00000325395.5:n.*1858A>C
ENST00000350303.9:c.1837A>C	ENSP00000344152.5:p.Lys613Gln
ENST00000356839.9:c.1903A>C	ENSP00000349297.5:p.Lys635Gln
ENST00000542255.6:c.782A>C
ENST00000543245.6:c.1972A>C	ENSP00000438689.2:p.Lys658Gln
ENST00000578033.1:n.328A>C
ENST00000578319.5:n.484A>C
ENST00000578711.1:n.1528A>C
ENST00000578809.5:n.475A>C
ENST00000579425.5:n.1019A>C
ENST00000583848.5:c.269A>C	ENSP00000466487.1:n.269A>C
ENST00000583850.5:n.674A>C
ENST00000583858.5:c.834A>C
NM_000018.3:c.1903A>C	NP_000009.1:p.Lys635Gln
NM_001033859.2:c.1837A>C	NP_001029031.1:p.Lys613Gln
NM_001270447.1:c.1972A>C	NP_001257376.1:p.Lys658Gln
NM_001270448.1:c.1675A>C	NP_001257377.1:p.Lys559Gln
XM_006721516.2:c.1924A>C	XP_006721579.2:p.Lys642Gln
XM_011523829.1:c.1822A>C	XP_011522131.1:p.Lys608Gln
XM_011523830.1:c.1801A>C	XP_011522132.1:p.Lys601Gln
XR_934021.1:n.2006A>C
XR_934022.1:n.1912A>C
XR_934023.1:n.1933A>C
XM_006721516.3:c.1924A>C	XP_006721579.2:p.Lys642Gln
XM_011523829.2:c.1822A>C	XP_011522131.1:p.Lys608Gln
XM_011523830.2:c.1801A>C	XP_011522132.1:p.Lys601Gln
XM_024450741.1:c.1891A>C	XP_024306509.1:p.Lys631Gln
XR_934021.2:n.1958A>C
XR_934022.2:n.1864A>C
XR_934023.2:n.1885A>C
NM_000018.4:c.1903A>C MANE Select	NP_000009.1:p.Lys635Gln
NM_001033859.3:c.1837A>C	NP_001029031.1:p.Lys613Gln
NM_001270447.2:c.1972A>C	NP_001257376.1:p.Lys658Gln
NM_001270448.2:c.1675A>C	NP_001257377.1:p.Lys559Gln