Canonical Allele Identifier: CA397725598
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 960315
ClinVar RCV Id: RCV001233819
dbSNP Id: rs1231882461
gnomAD v2: 17-7127857-A-G
gnomAD v3: 17-7224538-A-G
gnomAD v4: 17-7224538-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224538A>G , CM000679.2:g.7224538A>G GRCh38
NC_000017.10:g.7127857A>G , CM000679.1:g.7127857A>G GRCh37
NC_000017.9:g.7068581A>G NCBI36
NG_007975.1:g.9705A>G
NG_008391.2:g.513T>C
NG_033038.1:g.15007T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1664A>G MANE Select ENSP00000349297.5:p.Lys555Arg
ENST00000322910.9:c.*1619A>G ENSP00000325395.5:n.*1619A>G
ENST00000350303.9:c.1598A>G ENSP00000344152.5:p.Lys533Arg
ENST00000356839.9:c.1664A>G ENSP00000349297.5:p.Lys555Arg
ENST00000542255.6:c.522A>G
ENST00000543245.6:c.1733A>G ENSP00000438689.2:p.Lys578Arg
ENST00000578319.5:n.245A>G
ENST00000578711.1:n.1034A>G
ENST00000578809.5:n.236A>G
ENST00000579391.1:n.268A>G
ENST00000579425.5:n.780A>G
ENST00000579546.1:c.399A>G
ENST00000582450.1:n.172A>G
ENST00000583074.5:n.285A>G
ENST00000583848.5:c.50A>G ENSP00000466487.1:p.Lys17Arg
ENST00000583850.5:n.435A>G
ENST00000583858.5:c.595A>G
ENST00000585203.6:n.855A>G
NM_000018.3:c.1664A>G NP_000009.1:p.Lys555Arg
NM_001033859.2:c.1598A>G NP_001029031.1:p.Lys533Arg
NM_001270447.1:c.1733A>G NP_001257376.1:p.Lys578Arg
NM_001270448.1:c.1436A>G NP_001257377.1:p.Lys479Arg
XM_006721516.2:c.1664A>G XP_006721579.2:p.Lys555Arg
XM_011523829.1:c.1562A>G XP_011522131.1:p.Lys521Arg
XM_011523830.1:c.1562A>G XP_011522132.1:p.Lys521Arg
XR_934021.1:n.1767A>G
XR_934022.1:n.1673A>G
XR_934023.1:n.1673A>G
XM_006721516.3:c.1664A>G XP_006721579.2:p.Lys555Arg
XM_011523829.2:c.1562A>G XP_011522131.1:p.Lys521Arg
XM_011523830.2:c.1562A>G XP_011522132.1:p.Lys521Arg
XM_024450741.1:c.1652A>G XP_024306509.1:p.Lys551Arg
XR_934021.2:n.1719A>G
XR_934022.2:n.1625A>G
XR_934023.2:n.1625A>G
NM_000018.4:c.1664A>G MANE Select NP_000009.1:p.Lys555Arg
NM_001033859.3:c.1598A>G NP_001029031.1:p.Lys533Arg
NM_001270447.2:c.1733A>G NP_001257376.1:p.Lys578Arg
NM_001270448.2:c.1436A>G NP_001257377.1:p.Lys479Arg