Canonical Allele Identifier: CA2740095220

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2997771
• ClinVar RCV Id: RCV003854370

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224726G>C , CM000679.2:g.7224726G>C	GRCh38
NC_000017.10:g.7128045G>C , CM000679.1:g.7128045G>C	GRCh37
NC_000017.9:g.7068769G>C	NCBI36
NG_007975.1:g.9893G>C
NG_008391.2:g.325C>G
NG_033038.1:g.14819C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1751+12G>C MANE Select	ENSP00000349297.5:n.1751+12G>C
ENST00000322910.9:c.*1706+12G>C	ENSP00000325395.5:n.*1706+12G>C
ENST00000350303.9:c.1685+12G>C	ENSP00000344152.5:n.1685+12G>C
ENST00000356839.9:c.1751+12G>C	ENSP00000349297.5:n.1751+12G>C
ENST00000542255.6:c.548G>C
ENST00000543245.6:c.1820+12G>C	ENSP00000438689.2:n.1820+12G>C
ENST00000578033.1:n.94G>C
ENST00000578319.5:n.332+12G>C
ENST00000578711.1:n.1222G>C
ENST00000578809.5:n.323+12G>C
ENST00000579425.5:n.867+12G>C
ENST00000579546.1:c.486+12G>C
ENST00000583074.5:n.311G>C
ENST00000583848.5:c.117+12G>C	ENSP00000466487.1:n.117+12G>C
ENST00000583850.5:n.522+12G>C
ENST00000583858.5:c.682+12G>C
ENST00000585203.6:n.942+12G>C
NM_000018.3:c.1751+12G>C	NP_000009.1:n.1751+12G>C
NM_001033859.2:c.1685+12G>C	NP_001029031.1:n.1685+12G>C
NM_001270447.1:c.1820+12G>C	NP_001257376.1:n.1820+12G>C
NM_001270448.1:c.1523+12G>C	NP_001257377.1:n.1523+12G>C
XM_006721516.2:c.1690G>C	XP_006721579.2:p.Gly564Arg
XM_011523829.1:c.1588G>C	XP_011522131.1:p.Gly530Arg
XM_011523830.1:c.1649+12G>C	XP_011522132.1:n.1649+12G>C
XR_934021.1:n.1854+12G>C
XR_934022.1:n.1760+12G>C
XR_934023.1:n.1699G>C
XM_006721516.3:c.1690G>C	XP_006721579.2:p.Gly564Arg
XM_011523829.2:c.1588G>C	XP_011522131.1:p.Gly530Arg
XM_011523830.2:c.1649+12G>C	XP_011522132.1:n.1649+12G>C
XM_024450741.1:c.1739+12G>C	XP_024306509.1:n.1739+12G>C
XR_934021.2:n.1806+12G>C
XR_934022.2:n.1712+12G>C
XR_934023.2:n.1651G>C
NM_000018.4:c.1751+12G>C MANE Select	NP_000009.1:n.1751+12G>C
NM_001033859.3:c.1685+12G>C	NP_001029031.1:n.1685+12G>C
NM_001270447.2:c.1820+12G>C	NP_001257376.1:n.1820+12G>C
NM_001270448.2:c.1523+12G>C	NP_001257377.1:n.1523+12G>C