Canonical Allele Identifier: CA2245701206
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222179A= , CM000679.2:g.7222179A= GRCh38
NC_000017.10:g.7125498A= , CM000679.1:g.7125498A= GRCh37
NC_000017.9:g.7066222A= NCBI36
NG_007975.1:g.7346A=
NG_008391.2:g.2872T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.755A= MANE Select ENSP00000349297.5:p.Asn252=
ENST00000322910.9:c.*710A= ENSP00000325395.5:n.*710A=
ENST00000350303.9:c.689A= ENSP00000344152.5:p.Asn230=
ENST00000356839.9:c.755A= ENSP00000349297.5:p.Asn252=
ENST00000543245.6:c.824A= ENSP00000438689.2:p.Asn275=
ENST00000577191.5:n.927A=
ENST00000581378.5:c.473A=
ENST00000582379.1:n.139A=
NM_000018.3:c.755A= NP_000009.1:p.Asn252=
NM_001033859.2:c.689A= NP_001029031.1:p.Asn230=
NM_001270447.1:c.824A= NP_001257376.1:p.Asn275=
NM_001270448.1:c.527A= NP_001257377.1:p.Asn176=
XM_006721516.2:c.755A= XP_006721579.2:p.Asn252=
XM_011523829.1:c.755A= XP_011522131.1:p.Asn252=
XM_011523830.1:c.755A= XP_011522132.1:p.Asn252=
XR_934021.1:n.862A=
XR_934022.1:n.862A=
XR_934023.1:n.862A=
XM_006721516.3:c.755A= XP_006721579.2:p.Asn252=
XM_011523829.2:c.755A= XP_011522131.1:p.Asn252=
XM_011523830.2:c.755A= XP_011522132.1:p.Asn252=
XM_024450741.1:c.755A= XP_024306509.1:p.Asn252=
XR_934021.2:n.814A=
XR_934022.2:n.814A=
XR_934023.2:n.814A=
NM_000018.4:c.755A= MANE Select NP_000009.1:p.Asn252=
NM_001033859.3:c.689A= NP_001029031.1:p.Asn230=
NM_001270447.2:c.824A= NP_001257376.1:p.Asn275=
NM_001270448.2:c.527A= NP_001257377.1:p.Asn176=