Canonical Allele Identifier: CA497620189
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126028A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222709A>T , CM000679.2:g.7222709A>T GRCh38
NC_000017.10:g.7126028A>T , CM000679.1:g.7126028A>T GRCh37
NC_000017.9:g.7066752A>T NCBI36
NG_007975.1:g.7876A>T
NG_008391.2:g.2342T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.921A>T MANE Select ENSP00000349297.5:p.Thr307=
ENST00000322910.9:c.*876A>T ENSP00000325395.5:n.*876A>T
ENST00000350303.9:c.855A>T ENSP00000344152.5:p.Thr285=
ENST00000356839.9:c.921A>T ENSP00000349297.5:p.Thr307=
ENST00000543245.6:c.990A>T ENSP00000438689.2:p.Thr330=
ENST00000578824.5:n.70A>T
ENST00000581378.5:c.639A>T
ENST00000582379.1:n.305A>T
NM_000018.3:c.921A>T NP_000009.1:p.Thr307=
NM_001033859.2:c.855A>T NP_001029031.1:p.Thr285=
NM_001270447.1:c.990A>T NP_001257376.1:p.Thr330=
NM_001270448.1:c.693A>T NP_001257377.1:p.Thr231=
XM_006721516.2:c.921A>T XP_006721579.2:p.Thr307=
XM_011523829.1:c.921A>T XP_011522131.1:p.Thr307=
XM_011523830.1:c.921A>T XP_011522132.1:p.Thr307=
XR_934021.1:n.1028A>T
XR_934022.1:n.1028A>T
XR_934023.1:n.1028A>T
XM_006721516.3:c.921A>T XP_006721579.2:p.Thr307=
XM_011523829.2:c.921A>T XP_011522131.1:p.Thr307=
XM_011523830.2:c.921A>T XP_011522132.1:p.Thr307=
XM_024450741.1:c.921A>T XP_024306509.1:p.Thr307=
XR_934021.2:n.980A>T
XR_934022.2:n.980A>T
XR_934023.2:n.980A>T
NM_000018.4:c.921A>T MANE Select NP_000009.1:p.Thr307=
NM_001033859.3:c.855A>T NP_001029031.1:p.Thr285=
NM_001270447.2:c.990A>T NP_001257376.1:p.Thr330=
NM_001270448.2:c.693A>T NP_001257377.1:p.Thr231=