Canonical Allele Identifier: CA397725648
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224644G>C , CM000679.2:g.7224644G>C GRCh38
NC_000017.10:g.7127963G>C , CM000679.1:g.7127963G>C GRCh37
NC_000017.9:g.7068687G>C NCBI36
NG_007975.1:g.9811G>C
NG_008391.2:g.407C>G
NG_033038.1:g.14901C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1681G>C MANE Select ENSP00000349297.5:p.Glu561Gln
ENST00000322910.9:c.*1636G>C ENSP00000325395.5:n.*1636G>C
ENST00000350303.9:c.1615G>C ENSP00000344152.5:p.Glu539Gln
ENST00000356839.9:c.1681G>C ENSP00000349297.5:p.Glu561Gln
ENST00000542255.6:c.537-71G>C
ENST00000543245.6:c.1750G>C ENSP00000438689.2:p.Glu584Gln
ENST00000578033.1:n.12G>C
ENST00000578319.5:n.262G>C
ENST00000578711.1:n.1140G>C
ENST00000578809.5:n.253G>C
ENST00000579425.5:n.797G>C
ENST00000579546.1:c.416G>C
ENST00000582450.1:n.278G>C
ENST00000583074.5:n.300-71G>C
ENST00000583848.5:c.65-18G>C ENSP00000466487.1:n.65-18G>C
ENST00000583850.5:n.452G>C
ENST00000583858.5:c.612G>C
ENST00000585203.6:n.872G>C
NM_000018.3:c.1681G>C NP_000009.1:p.Glu561Gln
NM_001033859.2:c.1615G>C NP_001029031.1:p.Glu539Gln
NM_001270447.1:c.1750G>C NP_001257376.1:p.Glu584Gln
NM_001270448.1:c.1453G>C NP_001257377.1:p.Glu485Gln
XM_006721516.2:c.1679-71G>C XP_006721579.2:n.1679-71G>C
XM_011523829.1:c.1577-71G>C XP_011522131.1:n.1577-71G>C
XM_011523830.1:c.1579G>C XP_011522132.1:p.Glu527Gln
XR_934021.1:n.1784G>C
XR_934022.1:n.1690G>C
XR_934023.1:n.1688-71G>C
XM_006721516.3:c.1679-71G>C XP_006721579.2:n.1679-71G>C
XM_011523829.2:c.1577-71G>C XP_011522131.1:n.1577-71G>C
XM_011523830.2:c.1579G>C XP_011522132.1:p.Glu527Gln
XM_024450741.1:c.1669G>C XP_024306509.1:p.Glu557Gln
XR_934021.2:n.1736G>C
XR_934022.2:n.1642G>C
XR_934023.2:n.1640-71G>C
NM_000018.4:c.1681G>C MANE Select NP_000009.1:p.Glu561Gln
NM_001033859.3:c.1615G>C NP_001029031.1:p.Glu539Gln
NM_001270447.2:c.1750G>C NP_001257376.1:p.Glu584Gln
NM_001270448.2:c.1453G>C NP_001257377.1:p.Glu485Gln