Canonical Allele Identifier: CA397726220

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128388T>C (hg19) ; chr17:g.7225069T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225069T>C , CM000679.2:g.7225069T>C	GRCh38
NC_000017.10:g.7128388T>C , CM000679.1:g.7128388T>C	GRCh37
NC_000017.9:g.7069112T>C	NCBI36
NG_007975.1:g.10236T>C
NG_033038.1:g.14476A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1940T>C MANE Select	ENSP00000349297.5:p.Val647Ala
ENST00000322910.9:c.*1895T>C	ENSP00000325395.5:n.*1895T>C
ENST00000350303.9:c.1874T>C	ENSP00000344152.5:p.Val625Ala
ENST00000356839.9:c.1940T>C	ENSP00000349297.5:p.Val647Ala
ENST00000542255.6:c.819T>C
ENST00000543245.6:c.2009T>C	ENSP00000438689.2:p.Val670Ala
ENST00000578033.1:n.365T>C
ENST00000578319.5:n.521T>C
ENST00000578711.1:n.1565T>C
ENST00000578809.5:n.512T>C
ENST00000579425.5:n.1056T>C
ENST00000583848.5:c.306T>C	ENSP00000466487.1:n.306T>C
ENST00000583850.5:n.711T>C
ENST00000583858.5:c.871T>C
NM_000018.3:c.1940T>C	NP_000009.1:p.Val647Ala
NM_001033859.2:c.1874T>C	NP_001029031.1:p.Val625Ala
NM_001270447.1:c.2009T>C	NP_001257376.1:p.Val670Ala
NM_001270448.1:c.1712T>C	NP_001257377.1:p.Val571Ala
XM_006721516.2:c.1961T>C	XP_006721579.2:p.Val654Ala
XM_011523829.1:c.1859T>C	XP_011522131.1:p.Val620Ala
XM_011523830.1:c.1838T>C	XP_011522132.1:p.Val613Ala
XR_934021.1:n.2043T>C
XR_934022.1:n.1949T>C
XR_934023.1:n.1970T>C
XM_006721516.3:c.1961T>C	XP_006721579.2:p.Val654Ala
XM_011523829.2:c.1859T>C	XP_011522131.1:p.Val620Ala
XM_011523830.2:c.1838T>C	XP_011522132.1:p.Val613Ala
XM_024450741.1:c.1928T>C	XP_024306509.1:p.Val643Ala
XR_934021.2:n.1995T>C
XR_934022.2:n.1901T>C
XR_934023.2:n.1922T>C
NM_000018.4:c.1940T>C MANE Select	NP_000009.1:p.Val647Ala
NM_001033859.3:c.1874T>C	NP_001029031.1:p.Val625Ala
NM_001270447.2:c.2009T>C	NP_001257376.1:p.Val670Ala
NM_001270448.2:c.1712T>C	NP_001257377.1:p.Val571Ala