Canonical Allele Identifier: CA1139665162

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932837
• ClinVar RCV Id: RCV001200791 ; RCV001266826
• dbSNP Id: rs2071412066

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225020dup , CM000679.2:g.7225020dup	GRCh38
NC_000017.10:g.7128339dup , CM000679.1:g.7128339dup	GRCh37
NC_000017.9:g.7069063dup	NCBI36
NG_007975.1:g.10187dup
NG_008391.2:g.31dup
NG_033038.1:g.14525dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1891dup MANE Select	ENSP00000349297.5:p.Tyr631LeufsTer?
ENST00000322910.9:c.*1846dup	ENSP00000325395.5:n.*1846dup
ENST00000350303.9:c.1825dup	ENSP00000344152.5:p.Tyr609LeufsTer?
ENST00000356839.9:c.1891dup	ENSP00000349297.5:p.Tyr631LeufsTer?
ENST00000542255.6:c.770dup
ENST00000543245.6:c.1960dup	ENSP00000438689.2:p.Tyr654LeufsTer?
ENST00000578033.1:n.316dup
ENST00000578319.5:n.472dup
ENST00000578711.1:n.1516dup
ENST00000578809.5:n.463dup
ENST00000579425.5:n.1007dup
ENST00000583848.5:c.257dup	ENSP00000466487.1:n.257dup
ENST00000583850.5:n.662dup
ENST00000583858.5:c.822dup
NM_000018.3:c.1891dup	NP_000009.1:p.Tyr631LeufsTer?
NM_001033859.2:c.1825dup	NP_001029031.1:p.Tyr609LeufsTer?
NM_001270447.1:c.1960dup	NP_001257376.1:p.Tyr654LeufsTer?
NM_001270448.1:c.1663dup	NP_001257377.1:p.Tyr555LeufsTer?
XM_006721516.2:c.1912dup	XP_006721579.2:p.Tyr638LeufsTer?
XM_011523829.1:c.1810dup	XP_011522131.1:p.Tyr604LeufsTer?
XM_011523830.1:c.1789dup	XP_011522132.1:p.Tyr597LeufsTer?
XR_934021.1:n.1994dup
XR_934022.1:n.1900dup
XR_934023.1:n.1921dup
XM_006721516.3:c.1912dup	XP_006721579.2:p.Tyr638LeufsTer?
XM_011523829.2:c.1810dup	XP_011522131.1:p.Tyr604LeufsTer?
XM_011523830.2:c.1789dup	XP_011522132.1:p.Tyr597LeufsTer?
XM_024450741.1:c.1879dup	XP_024306509.1:p.Tyr627LeufsTer?
XR_934021.2:n.1946dup
XR_934022.2:n.1852dup
XR_934023.2:n.1873dup
NM_000018.4:c.1891dup MANE Select	NP_000009.1:p.Tyr631LeufsTer?
NM_001033859.3:c.1825dup	NP_001029031.1:p.Tyr609LeufsTer?
NM_001270447.2:c.1960dup	NP_001257376.1:p.Tyr654LeufsTer?
NM_001270448.2:c.1663dup	NP_001257377.1:p.Tyr555LeufsTer?