Canonical Allele Identifier: CA2245700118
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221573C= , CM000679.2:g.7221573C= GRCh38
NC_000017.10:g.7124892C= , CM000679.1:g.7124892C= GRCh37
NC_000017.9:g.7065616C= NCBI36
NG_007975.1:g.6740C=
NG_008391.2:g.3478G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.513C= MANE Select ENSP00000349297.5:p.Asp171=
ENST00000322910.9:c.*468C= ENSP00000325395.5:n.*468C=
ENST00000350303.9:c.447C= ENSP00000344152.5:p.Asp149=
ENST00000356839.9:c.513C= ENSP00000349297.5:p.Asp171=
ENST00000543245.6:c.582C= ENSP00000438689.2:p.Asp194=
ENST00000577191.5:n.590C=
ENST00000577433.5:n.721C=
ENST00000577857.5:n.329C=
ENST00000579286.5:n.694C=
ENST00000579886.2:c.351C= ENSP00000463246.1:p.Asp117=
ENST00000580365.1:n.244C=
ENST00000581378.5:c.231C=
ENST00000581562.5:n.525-379C=
ENST00000582166.1:n.494C=
ENST00000583312.5:c.513C= ENSP00000467920.1:p.Asp171=
ENST00000583760.1:n.295C=
NM_000018.3:c.513C= NP_000009.1:p.Asp171=
NM_001033859.2:c.447C= NP_001029031.1:p.Asp149=
NM_001270447.1:c.582C= NP_001257376.1:p.Asp194=
NM_001270448.1:c.285C= NP_001257377.1:p.Asp95=
XM_006721516.2:c.513C= XP_006721579.2:p.Asp171=
XM_011523829.1:c.513C= XP_011522131.1:p.Asp171=
XM_011523830.1:c.513C= XP_011522132.1:p.Asp171=
XR_934021.1:n.620C=
XR_934022.1:n.620C=
XR_934023.1:n.620C=
XM_006721516.3:c.513C= XP_006721579.2:p.Asp171=
XM_011523829.2:c.513C= XP_011522131.1:p.Asp171=
XM_011523830.2:c.513C= XP_011522132.1:p.Asp171=
XM_024450741.1:c.513C= XP_024306509.1:p.Asp171=
XR_934021.2:n.572C=
XR_934022.2:n.572C=
XR_934023.2:n.572C=
NM_000018.4:c.513C= MANE Select NP_000009.1:p.Asp171=
NM_001033859.3:c.447C= NP_001029031.1:p.Asp149=
NM_001270447.2:c.582C= NP_001257376.1:p.Asp194=
NM_001270448.2:c.285C= NP_001257377.1:p.Asp95=