Canonical Allele Identifier: CA397725710

Gene: ACADVL

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224674G>C , CM000679.2:g.7224674G>C	GRCh38
NC_000017.10:g.7127993G>C , CM000679.1:g.7127993G>C	GRCh37
NC_000017.9:g.7068717G>C	NCBI36
NG_007975.1:g.9841G>C
NG_008391.2:g.377C>G
NG_033038.1:g.14871C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1711G>C MANE Select	ENSP00000349297.5:p.Gly571Arg
ENST00000322910.9:c.*1666G>C	ENSP00000325395.5:n.*1666G>C
ENST00000350303.9:c.1645G>C	ENSP00000344152.5:p.Gly549Arg
ENST00000356839.9:c.1711G>C	ENSP00000349297.5:p.Gly571Arg
ENST00000542255.6:c.537-41G>C
ENST00000543245.6:c.1780G>C	ENSP00000438689.2:p.Gly594Arg
ENST00000578033.1:n.42G>C
ENST00000578319.5:n.292G>C
ENST00000578711.1:n.1170G>C
ENST00000578809.5:n.283G>C
ENST00000579425.5:n.827G>C
ENST00000579546.1:c.446G>C
ENST00000583074.5:n.300-41G>C
ENST00000583848.5:c.77G>C	ENSP00000466487.1:p.Arg26Pro
ENST00000583850.5:n.482G>C
ENST00000583858.5:c.642G>C
ENST00000585203.6:n.902G>C
NM_000018.3:c.1711G>C	NP_000009.1:p.Gly571Arg
NM_001033859.2:c.1645G>C	NP_001029031.1:p.Gly549Arg
NM_001270447.1:c.1780G>C	NP_001257376.1:p.Gly594Arg
NM_001270448.1:c.1483G>C	NP_001257377.1:p.Gly495Arg
XM_006721516.2:c.1679-41G>C	XP_006721579.2:n.1679-41G>C
XM_011523829.1:c.1577-41G>C	XP_011522131.1:n.1577-41G>C
XM_011523830.1:c.1609G>C	XP_011522132.1:p.Gly537Arg
XR_934021.1:n.1814G>C
XR_934022.1:n.1720G>C
XR_934023.1:n.1688-41G>C
XM_006721516.3:c.1679-41G>C	XP_006721579.2:n.1679-41G>C
XM_011523829.2:c.1577-41G>C	XP_011522131.1:n.1577-41G>C
XM_011523830.2:c.1609G>C	XP_011522132.1:p.Gly537Arg
XM_024450741.1:c.1699G>C	XP_024306509.1:p.Gly567Arg
XR_934021.2:n.1766G>C
XR_934022.2:n.1672G>C
XR_934023.2:n.1640-41G>C
NM_000018.4:c.1711G>C MANE Select	NP_000009.1:p.Gly571Arg
NM_001033859.3:c.1645G>C	NP_001029031.1:p.Gly549Arg
NM_001270447.2:c.1780G>C	NP_001257376.1:p.Gly594Arg
NM_001270448.2:c.1483G>C	NP_001257377.1:p.Gly495Arg