Canonical Allele Identifier: CA397726193

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2959929
• ClinVar RCV Id: RCV003812104
• dbSNP Id: rs1282005622
• gnomAD v3: 17-7225054-T-C
• gnomAD v4: 17-7225054-T-C
• MyVariant Identifiers: chr17:g.7128373T>C (hg19) ; chr17:g.7225054T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225054T>C , CM000679.2:g.7225054T>C	GRCh38
NC_000017.10:g.7128373T>C , CM000679.1:g.7128373T>C	GRCh37
NC_000017.9:g.7069097T>C	NCBI36
NG_007975.1:g.10221T>C
NG_033038.1:g.14491A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1925T>C MANE Select	ENSP00000349297.5:p.Val642Ala
ENST00000322910.9:c.*1880T>C	ENSP00000325395.5:n.*1880T>C
ENST00000350303.9:c.1859T>C	ENSP00000344152.5:p.Val620Ala
ENST00000356839.9:c.1925T>C	ENSP00000349297.5:p.Val642Ala
ENST00000542255.6:c.804T>C
ENST00000543245.6:c.1994T>C	ENSP00000438689.2:p.Val665Ala
ENST00000578033.1:n.350T>C
ENST00000578319.5:n.506T>C
ENST00000578711.1:n.1550T>C
ENST00000578809.5:n.497T>C
ENST00000579425.5:n.1041T>C
ENST00000583848.5:c.291T>C	ENSP00000466487.1:n.291T>C
ENST00000583850.5:n.696T>C
ENST00000583858.5:c.856T>C
NM_000018.3:c.1925T>C	NP_000009.1:p.Val642Ala
NM_001033859.2:c.1859T>C	NP_001029031.1:p.Val620Ala
NM_001270447.1:c.1994T>C	NP_001257376.1:p.Val665Ala
NM_001270448.1:c.1697T>C	NP_001257377.1:p.Val566Ala
XM_006721516.2:c.1946T>C	XP_006721579.2:p.Val649Ala
XM_011523829.1:c.1844T>C	XP_011522131.1:p.Val615Ala
XM_011523830.1:c.1823T>C	XP_011522132.1:p.Val608Ala
XR_934021.1:n.2028T>C
XR_934022.1:n.1934T>C
XR_934023.1:n.1955T>C
XM_006721516.3:c.1946T>C	XP_006721579.2:p.Val649Ala
XM_011523829.2:c.1844T>C	XP_011522131.1:p.Val615Ala
XM_011523830.2:c.1823T>C	XP_011522132.1:p.Val608Ala
XM_024450741.1:c.1913T>C	XP_024306509.1:p.Val638Ala
XR_934021.2:n.1980T>C
XR_934022.2:n.1886T>C
XR_934023.2:n.1907T>C
NM_000018.4:c.1925T>C MANE Select	NP_000009.1:p.Val642Ala
NM_001033859.3:c.1859T>C	NP_001029031.1:p.Val620Ala
NM_001270447.2:c.1994T>C	NP_001257376.1:p.Val665Ala
NM_001270448.2:c.1697T>C	NP_001257377.1:p.Val566Ala