Canonical Allele Identifier: CA397726187

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 553283
• ClinVar RCV Id: RCV000668695
• dbSNP Id: rs1452402269
• gnomAD v2: 17-7128371-G-C
• gnomAD v4: 17-7225052-G-C
• MyVariant Identifiers: chr17:g.7128371G>C (hg19) ; chr17:g.7225052G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225052G>C , CM000679.2:g.7225052G>C	GRCh38
NC_000017.10:g.7128371G>C , CM000679.1:g.7128371G>C	GRCh37
NC_000017.9:g.7069095G>C	NCBI36
NG_007975.1:g.10219G>C
NG_033038.1:g.14493C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1923G>C MANE Select	ENSP00000349297.5:p.Leu641Phe
ENST00000322910.9:c.*1878G>C	ENSP00000325395.5:n.*1878G>C
ENST00000350303.9:c.1857G>C	ENSP00000344152.5:p.Leu619Phe
ENST00000356839.9:c.1923G>C	ENSP00000349297.5:p.Leu641Phe
ENST00000542255.6:c.802G>C
ENST00000543245.6:c.1992G>C	ENSP00000438689.2:p.Leu664Phe
ENST00000578033.1:n.348G>C
ENST00000578319.5:n.504G>C
ENST00000578711.1:n.1548G>C
ENST00000578809.5:n.495G>C
ENST00000579425.5:n.1039G>C
ENST00000583848.5:c.289G>C	ENSP00000466487.1:n.289G>C
ENST00000583850.5:n.694G>C
ENST00000583858.5:c.854G>C
NM_000018.3:c.1923G>C	NP_000009.1:p.Leu641Phe
NM_001033859.2:c.1857G>C	NP_001029031.1:p.Leu619Phe
NM_001270447.1:c.1992G>C	NP_001257376.1:p.Leu664Phe
NM_001270448.1:c.1695G>C	NP_001257377.1:p.Leu565Phe
XM_006721516.2:c.1944G>C	XP_006721579.2:p.Leu648Phe
XM_011523829.1:c.1842G>C	XP_011522131.1:p.Leu614Phe
XM_011523830.1:c.1821G>C	XP_011522132.1:p.Leu607Phe
XR_934021.1:n.2026G>C
XR_934022.1:n.1932G>C
XR_934023.1:n.1953G>C
XM_006721516.3:c.1944G>C	XP_006721579.2:p.Leu648Phe
XM_011523829.2:c.1842G>C	XP_011522131.1:p.Leu614Phe
XM_011523830.2:c.1821G>C	XP_011522132.1:p.Leu607Phe
XM_024450741.1:c.1911G>C	XP_024306509.1:p.Leu637Phe
XR_934021.2:n.1978G>C
XR_934022.2:n.1884G>C
XR_934023.2:n.1905G>C
NM_000018.4:c.1923G>C MANE Select	NP_000009.1:p.Leu641Phe
NM_001033859.3:c.1857G>C	NP_001029031.1:p.Leu619Phe
NM_001270447.2:c.1992G>C	NP_001257376.1:p.Leu664Phe
NM_001270448.2:c.1695G>C	NP_001257377.1:p.Leu565Phe