Canonical Allele Identifier: CA8337799
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 324988
dbSNP Id: rs76547988

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221965C>T , CM000679.2:g.7221965C>T GRCh38
NC_000017.10:g.7125284C>T , CM000679.1:g.7125284C>T GRCh37
NC_000017.9:g.7066008C>T NCBI36
NG_007975.1:g.7132C>T
NG_008391.2:g.3086G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.636C>T MANE Select ENSP00000349297.5:p.Ala212=
ENST00000322910.9:c.*591C>T ENSP00000325395.5:p.=
ENST00000350303.9:c.570C>T ENSP00000344152.5:p.Ala190=
ENST00000356839.9:c.636C>T ENSP00000349297.5:p.Ala212=
ENST00000543245.6:c.705C>T ENSP00000438689.2:p.Ala235=
ENST00000577191.5:n.713C>T
ENST00000577857.5:n.452C>T
ENST00000579286.5:n.817C>T
ENST00000580365.1:n.367C>T
ENST00000581378.5:n.354C>T
ENST00000581562.5:n.538C>T
ENST00000582379.1:n.20C>T
ENST00000583312.5:c.651C>T ENSP00000467920.1:p.Ala217=
ENST00000583760.1:n.418C>T
NM_000018.3:c.636C>T NP_000009.1:p.Ala212=
NM_001033859.2:c.570C>T NP_001029031.1:p.Ala190=
NM_001270447.1:c.705C>T NP_001257376.1:p.Ala235=
NM_001270448.1:c.408C>T NP_001257377.1:p.Ala136=
XM_006721516.2:c.636C>T XP_006721579.2:p.Ala212=
XM_011523829.1:c.636C>T XP_011522131.1:p.Ala212=
XM_011523830.1:c.636C>T XP_011522132.1:p.Ala212=
XR_934021.1:n.743C>T
XR_934022.1:n.743C>T
XR_934023.1:n.743C>T
XM_006721516.3:c.636C>T XP_006721579.2:p.Ala212=
XM_011523829.2:c.636C>T XP_011522131.1:p.Ala212=
XM_011523830.2:c.636C>T XP_011522132.1:p.Ala212=
XM_024450741.1:c.636C>T XP_024306509.1:p.Ala212=
XR_934021.2:n.695C>T
XR_934022.2:n.695C>T
XR_934023.2:n.695C>T
NM_000018.4:c.636C>T MANE Select NP_000009.1:p.Ala212=
NM_001033859.3:c.570C>T NP_001029031.1:p.Ala190=
NM_001270447.2:c.705C>T NP_001257376.1:p.Ala235=
NM_001270448.2:c.408C>T NP_001257377.1:p.Ala136=