Canonical Allele Identifier: CA397726077

Gene: ACADVL

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1874C>T MANE Select	ENSP00000349297.5:p.Pro625Leu
ENST00000322910.9:c.*1829C>T	ENSP00000325395.5:n.*1829C>T
ENST00000350303.9:c.1808C>T	ENSP00000344152.5:p.Pro603Leu
ENST00000356839.9:c.1874C>T	ENSP00000349297.5:p.Pro625Leu
ENST00000542255.6:c.753C>T
ENST00000543245.6:c.1943C>T	ENSP00000438689.2:p.Pro648Leu
ENST00000578033.1:n.299C>T
ENST00000578319.5:n.455C>T
ENST00000578711.1:n.1499C>T
ENST00000578809.5:n.446C>T
ENST00000579425.5:n.990C>T
ENST00000583848.5:c.240C>T	ENSP00000466487.1:n.240C>T
ENST00000583850.5:n.645C>T
ENST00000583858.5:c.805C>T
NM_000018.3:c.1874C>T	NP_000009.1:p.Pro625Leu
NM_001033859.2:c.1808C>T	NP_001029031.1:p.Pro603Leu
NM_001270447.1:c.1943C>T	NP_001257376.1:p.Pro648Leu
NM_001270448.1:c.1646C>T	NP_001257377.1:p.Pro549Leu
XM_006721516.2:c.1895C>T	XP_006721579.2:p.Pro632Leu
XM_011523829.1:c.1793C>T	XP_011522131.1:p.Pro598Leu
XM_011523830.1:c.1772C>T	XP_011522132.1:p.Pro591Leu
XR_934021.1:n.1977C>T
XR_934022.1:n.1883C>T
XR_934023.1:n.1904C>T
XM_006721516.3:c.1895C>T	XP_006721579.2:p.Pro632Leu
XM_011523829.2:c.1793C>T	XP_011522131.1:p.Pro598Leu
XM_011523830.2:c.1772C>T	XP_011522132.1:p.Pro591Leu
XM_024450741.1:c.1862C>T	XP_024306509.1:p.Pro621Leu
XR_934021.2:n.1929C>T
XR_934022.2:n.1835C>T
XR_934023.2:n.1856C>T
NM_000018.4:c.1874C>T MANE Select	NP_000009.1:p.Pro625Leu
NM_001033859.3:c.1808C>T	NP_001029031.1:p.Pro603Leu
NM_001270447.2:c.1943C>T	NP_001257376.1:p.Pro648Leu
NM_001270448.2:c.1646C>T	NP_001257377.1:p.Pro549Leu