Canonical Allele Identifier: CA397726076

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128322C>G (hg19) ; chr17:g.7225003C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225003C>G , CM000679.2:g.7225003C>G	GRCh38
NC_000017.10:g.7128322C>G , CM000679.1:g.7128322C>G	GRCh37
NC_000017.9:g.7069046C>G	NCBI36
NG_007975.1:g.10170C>G
NG_008391.2:g.48G>C
NG_033038.1:g.14542G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1874C>G MANE Select	ENSP00000349297.5:p.Pro625Arg
ENST00000322910.9:c.*1829C>G	ENSP00000325395.5:n.*1829C>G
ENST00000350303.9:c.1808C>G	ENSP00000344152.5:p.Pro603Arg
ENST00000356839.9:c.1874C>G	ENSP00000349297.5:p.Pro625Arg
ENST00000542255.6:c.753C>G
ENST00000543245.6:c.1943C>G	ENSP00000438689.2:p.Pro648Arg
ENST00000578033.1:n.299C>G
ENST00000578319.5:n.455C>G
ENST00000578711.1:n.1499C>G
ENST00000578809.5:n.446C>G
ENST00000579425.5:n.990C>G
ENST00000583848.5:c.240C>G	ENSP00000466487.1:n.240C>G
ENST00000583850.5:n.645C>G
ENST00000583858.5:c.805C>G
NM_000018.3:c.1874C>G	NP_000009.1:p.Pro625Arg
NM_001033859.2:c.1808C>G	NP_001029031.1:p.Pro603Arg
NM_001270447.1:c.1943C>G	NP_001257376.1:p.Pro648Arg
NM_001270448.1:c.1646C>G	NP_001257377.1:p.Pro549Arg
XM_006721516.2:c.1895C>G	XP_006721579.2:p.Pro632Arg
XM_011523829.1:c.1793C>G	XP_011522131.1:p.Pro598Arg
XM_011523830.1:c.1772C>G	XP_011522132.1:p.Pro591Arg
XR_934021.1:n.1977C>G
XR_934022.1:n.1883C>G
XR_934023.1:n.1904C>G
XM_006721516.3:c.1895C>G	XP_006721579.2:p.Pro632Arg
XM_011523829.2:c.1793C>G	XP_011522131.1:p.Pro598Arg
XM_011523830.2:c.1772C>G	XP_011522132.1:p.Pro591Arg
XM_024450741.1:c.1862C>G	XP_024306509.1:p.Pro621Arg
XR_934021.2:n.1929C>G
XR_934022.2:n.1835C>G
XR_934023.2:n.1856C>G
NM_000018.4:c.1874C>G MANE Select	NP_000009.1:p.Pro625Arg
NM_001033859.3:c.1808C>G	NP_001029031.1:p.Pro603Arg
NM_001270447.2:c.1943C>G	NP_001257376.1:p.Pro648Arg
NM_001270448.2:c.1646C>G	NP_001257377.1:p.Pro549Arg