Canonical Allele Identifier: CA397725347
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224334G>A , CM000679.2:g.7224334G>A GRCh38
NC_000017.10:g.7127653G>A , CM000679.1:g.7127653G>A GRCh37
NC_000017.9:g.7068377G>A NCBI36
NG_007975.1:g.9501G>A
NG_008391.2:g.717C>T
NG_033038.1:g.15211C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1546G>A MANE Select ENSP00000349297.5:p.Gly516Ser
ENST00000322910.9:c.*1501G>A ENSP00000325395.5:n.*1501G>A
ENST00000350303.9:c.1480G>A ENSP00000344152.5:p.Gly494Ser
ENST00000356839.9:c.1546G>A ENSP00000349297.5:p.Gly516Ser
ENST00000542255.6:c.404G>A
ENST00000543245.6:c.1615G>A ENSP00000438689.2:p.Gly539Ser
ENST00000578319.5:n.41G>A
ENST00000578711.1:n.830G>A
ENST00000578809.5:n.118G>A
ENST00000579391.1:n.154G>A
ENST00000579425.5:n.662G>A
ENST00000579546.1:c.285G>A
ENST00000579894.5:n.333G>A
ENST00000582450.1:n.54G>A
ENST00000583074.5:n.167G>A
ENST00000583850.5:n.321G>A
ENST00000583858.5:c.477G>A
ENST00000585203.6:n.737G>A
NM_000018.3:c.1546G>A NP_000009.1:p.Gly516Ser
NM_001033859.2:c.1480G>A NP_001029031.1:p.Gly494Ser
NM_001270447.1:c.1615G>A NP_001257376.1:p.Gly539Ser
NM_001270448.1:c.1318G>A NP_001257377.1:p.Gly440Ser
XM_006721516.2:c.1546G>A XP_006721579.2:p.Gly516Ser
XM_011523829.1:c.1448G>A XP_011522131.1:p.Gly483Glu
XM_011523830.1:c.1448G>A XP_011522132.1:p.Gly483Glu
XR_934021.1:n.1653G>A
XR_934022.1:n.1555G>A
XR_934023.1:n.1555G>A
XM_006721516.3:c.1546G>A XP_006721579.2:p.Gly516Ser
XM_011523829.2:c.1448G>A XP_011522131.1:p.Gly483Glu
XM_011523830.2:c.1448G>A XP_011522132.1:p.Gly483Glu
XM_024450741.1:c.1448G>A XP_024306509.1:p.Gly483Glu
XR_934021.2:n.1605G>A
XR_934022.2:n.1507G>A
XR_934023.2:n.1507G>A
NM_000018.4:c.1546G>A MANE Select NP_000009.1:p.Gly516Ser
NM_001033859.3:c.1480G>A NP_001029031.1:p.Gly494Ser
NM_001270447.2:c.1615G>A NP_001257376.1:p.Gly539Ser
NM_001270448.2:c.1318G>A NP_001257377.1:p.Gly440Ser