Canonical Allele Identifier: CA2245713997
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224384T= , CM000679.2:g.7224384T= GRCh38
NC_000017.10:g.7127703T= , CM000679.1:g.7127703T= GRCh37
NC_000017.9:g.7068427T= NCBI36
NG_007975.1:g.9551T=
NG_008391.2:g.667A=
NG_033038.1:g.15161A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1596T= MANE Select ENSP00000349297.5:p.Ser532=
ENST00000322910.9:c.*1551T= ENSP00000325395.5:n.*1551T=
ENST00000350303.9:c.1530T= ENSP00000344152.5:p.Ser510=
ENST00000356839.9:c.1596T= ENSP00000349297.5:p.Ser532=
ENST00000542255.6:c.454T=
ENST00000543245.6:c.1665T= ENSP00000438689.2:p.Ser555=
ENST00000578319.5:n.91T=
ENST00000578711.1:n.880T=
ENST00000578809.5:n.168T=
ENST00000579391.1:n.204T=
ENST00000579425.5:n.712T=
ENST00000579546.1:c.335T=
ENST00000579894.5:n.383T=
ENST00000582450.1:n.104T=
ENST00000583074.5:n.217T=
ENST00000583850.5:n.371T=
ENST00000583858.5:c.527T=
ENST00000585203.6:n.787T=
NM_000018.3:c.1596T= NP_000009.1:p.Ser532=
NM_001033859.2:c.1530T= NP_001029031.1:p.Ser510=
NM_001270447.1:c.1665T= NP_001257376.1:p.Ser555=
NM_001270448.1:c.1368T= NP_001257377.1:p.Ser456=
XM_006721516.2:c.1596T= XP_006721579.2:p.Ser532=
XM_011523829.1:c.1498T= XP_011522131.1:p.Trp500=
XM_011523830.1:c.1498T= XP_011522132.1:p.Trp500=
XR_934021.1:n.1703T=
XR_934022.1:n.1605T=
XR_934023.1:n.1605T=
XM_006721516.3:c.1596T= XP_006721579.2:p.Ser532=
XM_011523829.2:c.1498T= XP_011522131.1:p.Trp500=
XM_011523830.2:c.1498T= XP_011522132.1:p.Trp500=
XM_024450741.1:c.1498T= XP_024306509.1:p.Trp500=
XR_934021.2:n.1655T=
XR_934022.2:n.1557T=
XR_934023.2:n.1557T=
NM_000018.4:c.1596T= MANE Select NP_000009.1:p.Ser532=
NM_001033859.3:c.1530T= NP_001029031.1:p.Ser510=
NM_001270447.2:c.1665T= NP_001257376.1:p.Ser555=
NM_001270448.2:c.1368T= NP_001257377.1:p.Ser456=