Canonical Allele Identifier: CA397723570
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125385G>T (hg19) chr17:g.7222066G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222066G>T , CM000679.2:g.7222066G>T GRCh38
NC_000017.10:g.7125385G>T , CM000679.1:g.7125385G>T GRCh37
NC_000017.9:g.7066109G>T NCBI36
NG_007975.1:g.7233G>T
NG_008391.2:g.2985C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.737G>T MANE Select ENSP00000349297.5:p.Ser246Ile
ENST00000322910.9:c.*692G>T ENSP00000325395.5:n.*692G>T
ENST00000350303.9:c.671G>T ENSP00000344152.5:p.Ser224Ile
ENST00000356839.9:c.737G>T ENSP00000349297.5:p.Ser246Ile
ENST00000543245.6:c.806G>T ENSP00000438689.2:p.Ser269Ile
ENST00000577191.5:n.814G>T
ENST00000577857.5:n.553G>T
ENST00000579286.5:n.918G>T
ENST00000580365.1:n.468G>T
ENST00000581378.5:c.455G>T
ENST00000582379.1:n.121G>T
ENST00000583760.1:n.519G>T
NM_000018.3:c.737G>T NP_000009.1:p.Ser246Ile
NM_001033859.2:c.671G>T NP_001029031.1:p.Ser224Ile
NM_001270447.1:c.806G>T NP_001257376.1:p.Ser269Ile
NM_001270448.1:c.509G>T NP_001257377.1:p.Ser170Ile
XM_006721516.2:c.737G>T XP_006721579.2:p.Ser246Ile
XM_011523829.1:c.737G>T XP_011522131.1:p.Ser246Ile
XM_011523830.1:c.737G>T XP_011522132.1:p.Ser246Ile
XR_934021.1:n.844G>T
XR_934022.1:n.844G>T
XR_934023.1:n.844G>T
XM_006721516.3:c.737G>T XP_006721579.2:p.Ser246Ile
XM_011523829.2:c.737G>T XP_011522131.1:p.Ser246Ile
XM_011523830.2:c.737G>T XP_011522132.1:p.Ser246Ile
XM_024450741.1:c.737G>T XP_024306509.1:p.Ser246Ile
XR_934021.2:n.796G>T
XR_934022.2:n.796G>T
XR_934023.2:n.796G>T
NM_000018.4:c.737G>T MANE Select NP_000009.1:p.Ser246Ile
NM_001033859.3:c.671G>T NP_001029031.1:p.Ser224Ile
NM_001270447.2:c.806G>T NP_001257376.1:p.Ser269Ile
NM_001270448.2:c.509G>T NP_001257377.1:p.Ser170Ile
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