Canonical Allele Identifier: CA397723164
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221619A>T , CM000679.2:g.7221619A>T GRCh38
NC_000017.10:g.7124938A>T , CM000679.1:g.7124938A>T GRCh37
NC_000017.9:g.7065662A>T NCBI36
NG_007975.1:g.6786A>T
NG_008391.2:g.3432T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.559A>T MANE Select ENSP00000349297.5:p.Lys187Ter
ENST00000322910.9:c.*514A>T ENSP00000325395.5:n.*514A>T
ENST00000350303.9:c.493A>T ENSP00000344152.5:p.Lys165Ter
ENST00000356839.9:c.559A>T ENSP00000349297.5:p.Lys187Ter
ENST00000543245.6:c.628A>T ENSP00000438689.2:p.Lys210Ter
ENST00000577191.5:n.636A>T
ENST00000577433.5:n.767A>T
ENST00000577857.5:n.375A>T
ENST00000579286.5:n.740A>T
ENST00000579886.2:c.397A>T ENSP00000463246.1:p.Lys133Ter
ENST00000580365.1:n.290A>T
ENST00000581378.5:c.277A>T
ENST00000581562.5:n.525-333A>T
ENST00000582166.1:n.540A>T
ENST00000583312.5:c.559A>T ENSP00000467920.1:p.Lys187Ter
ENST00000583760.1:n.341A>T
NM_000018.3:c.559A>T NP_000009.1:p.Lys187Ter
NM_001033859.2:c.493A>T NP_001029031.1:p.Lys165Ter
NM_001270447.1:c.628A>T NP_001257376.1:p.Lys210Ter
NM_001270448.1:c.331A>T NP_001257377.1:p.Lys111Ter
XM_006721516.2:c.559A>T XP_006721579.2:p.Lys187Ter
XM_011523829.1:c.559A>T XP_011522131.1:p.Lys187Ter
XM_011523830.1:c.559A>T XP_011522132.1:p.Lys187Ter
XR_934021.1:n.666A>T
XR_934022.1:n.666A>T
XR_934023.1:n.666A>T
XM_006721516.3:c.559A>T XP_006721579.2:p.Lys187Ter
XM_011523829.2:c.559A>T XP_011522131.1:p.Lys187Ter
XM_011523830.2:c.559A>T XP_011522132.1:p.Lys187Ter
XM_024450741.1:c.559A>T XP_024306509.1:p.Lys187Ter
XR_934021.2:n.618A>T
XR_934022.2:n.618A>T
XR_934023.2:n.618A>T
NM_000018.4:c.559A>T MANE Select NP_000009.1:p.Lys187Ter
NM_001033859.3:c.493A>T NP_001029031.1:p.Lys165Ter
NM_001270447.2:c.628A>T NP_001257376.1:p.Lys210Ter
NM_001270448.2:c.331A>T NP_001257377.1:p.Lys111Ter