Canonical Allele Identifier: CA397723389
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125297A>T (hg19) chr17:g.7221978A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221978A>T , CM000679.2:g.7221978A>T GRCh38
NC_000017.10:g.7125297A>T , CM000679.1:g.7125297A>T GRCh37
NC_000017.9:g.7066021A>T NCBI36
NG_007975.1:g.7145A>T
NG_008391.2:g.3073T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.649A>T MANE Select ENSP00000349297.5:p.Thr217Ser
ENST00000322910.9:c.*604A>T ENSP00000325395.5:n.*604A>T
ENST00000350303.9:c.583A>T ENSP00000344152.5:p.Thr195Ser
ENST00000356839.9:c.649A>T ENSP00000349297.5:p.Thr217Ser
ENST00000543245.6:c.718A>T ENSP00000438689.2:p.Thr240Ser
ENST00000577191.5:n.726A>T
ENST00000577857.5:n.465A>T
ENST00000579286.5:n.830A>T
ENST00000580365.1:n.380A>T
ENST00000581378.5:c.367A>T
ENST00000581562.5:n.551A>T
ENST00000582379.1:n.33A>T
ENST00000583312.5:c.664A>T ENSP00000467920.1:p.Thr222Ser
ENST00000583760.1:n.431A>T
NM_000018.3:c.649A>T NP_000009.1:p.Thr217Ser
NM_001033859.2:c.583A>T NP_001029031.1:p.Thr195Ser
NM_001270447.1:c.718A>T NP_001257376.1:p.Thr240Ser
NM_001270448.1:c.421A>T NP_001257377.1:p.Thr141Ser
XM_006721516.2:c.649A>T XP_006721579.2:p.Thr217Ser
XM_011523829.1:c.649A>T XP_011522131.1:p.Thr217Ser
XM_011523830.1:c.649A>T XP_011522132.1:p.Thr217Ser
XR_934021.1:n.756A>T
XR_934022.1:n.756A>T
XR_934023.1:n.756A>T
XM_006721516.3:c.649A>T XP_006721579.2:p.Thr217Ser
XM_011523829.2:c.649A>T XP_011522131.1:p.Thr217Ser
XM_011523830.2:c.649A>T XP_011522132.1:p.Thr217Ser
XM_024450741.1:c.649A>T XP_024306509.1:p.Thr217Ser
XR_934021.2:n.708A>T
XR_934022.2:n.708A>T
XR_934023.2:n.708A>T
NM_000018.4:c.649A>T MANE Select NP_000009.1:p.Thr217Ser
NM_001033859.3:c.583A>T NP_001029031.1:p.Thr195Ser
NM_001270447.2:c.718A>T NP_001257376.1:p.Thr240Ser
NM_001270448.2:c.421A>T NP_001257377.1:p.Thr141Ser
Search 100 bp 5'
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