Canonical Allele Identifier: CA397724777
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127146G>T (hg19) chr17:g.7223827G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223827G>T , CM000679.2:g.7223827G>T GRCh38
NC_000017.10:g.7127146G>T , CM000679.1:g.7127146G>T GRCh37
NC_000017.9:g.7067870G>T NCBI36
NG_007975.1:g.8994G>T
NG_008391.2:g.1224C>A
NG_033038.1:g.15718C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1284G>T MANE Select ENSP00000349297.5:p.Lys428Asn
ENST00000322910.9:c.*1239G>T ENSP00000325395.5:n.*1239G>T
ENST00000350303.9:c.1218G>T ENSP00000344152.5:p.Lys406Asn
ENST00000356839.9:c.1284G>T ENSP00000349297.5:p.Lys428Asn
ENST00000542255.6:c.142G>T
ENST00000543245.6:c.1353G>T ENSP00000438689.2:p.Lys451Asn
ENST00000578579.2:n.455G>T
ENST00000578711.1:n.323G>T
ENST00000578824.5:n.700G>T
ENST00000579425.5:n.308G>T
ENST00000579546.1:c.121G>T
ENST00000583074.5:n.3G>T
ENST00000583850.5:n.59G>T
ENST00000583858.5:c.313G>T
ENST00000585203.6:n.492G>T
NM_000018.3:c.1284G>T NP_000009.1:p.Lys428Asn
NM_001033859.2:c.1218G>T NP_001029031.1:p.Lys406Asn
NM_001270447.1:c.1353G>T NP_001257376.1:p.Lys451Asn
NM_001270448.1:c.1056G>T NP_001257377.1:p.Lys352Asn
XM_006721516.2:c.1284G>T XP_006721579.2:p.Lys428Asn
XM_011523829.1:c.1284G>T XP_011522131.1:p.Lys428Asn
XM_011523830.1:c.1284G>T XP_011522132.1:p.Lys428Asn
XR_934021.1:n.1391G>T
XR_934022.1:n.1391G>T
XR_934023.1:n.1391G>T
XM_006721516.3:c.1284G>T XP_006721579.2:p.Lys428Asn
XM_011523829.2:c.1284G>T XP_011522131.1:p.Lys428Asn
XM_011523830.2:c.1284G>T XP_011522132.1:p.Lys428Asn
XM_024450741.1:c.1284G>T XP_024306509.1:p.Lys428Asn
XR_934021.2:n.1343G>T
XR_934022.2:n.1343G>T
XR_934023.2:n.1343G>T
NM_000018.4:c.1284G>T MANE Select NP_000009.1:p.Lys428Asn
NM_001033859.3:c.1218G>T NP_001029031.1:p.Lys406Asn
NM_001270447.2:c.1353G>T NP_001257376.1:p.Lys451Asn
NM_001270448.2:c.1056G>T NP_001257377.1:p.Lys352Asn
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