Canonical Allele Identifier: CA397724623
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126998G>T (hg19) chr17:g.7223679G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223679G>T , CM000679.2:g.7223679G>T GRCh38
NC_000017.10:g.7126998G>T , CM000679.1:g.7126998G>T GRCh37
NC_000017.9:g.7067722G>T NCBI36
NG_007975.1:g.8846G>T
NG_008391.2:g.1372C>A
NG_033038.1:g.15866C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1218G>T MANE Select ENSP00000349297.5:p.Gln406His
ENST00000322910.9:c.*1173G>T ENSP00000325395.5:n.*1173G>T
ENST00000350303.9:c.1152G>T ENSP00000344152.5:p.Gln384His
ENST00000356839.9:c.1218G>T ENSP00000349297.5:p.Gln406His
ENST00000542255.6:c.76G>T
ENST00000543245.6:c.1287G>T ENSP00000438689.2:p.Gln429His
ENST00000578579.2:n.389G>T
ENST00000578711.1:n.175G>T
ENST00000578824.5:n.634G>T
ENST00000579425.5:n.242G>T
ENST00000579546.1:c.55G>T
ENST00000583858.5:c.247G>T
ENST00000585203.6:n.426G>T
NM_000018.3:c.1218G>T NP_000009.1:p.Gln406His
NM_001033859.2:c.1152G>T NP_001029031.1:p.Gln384His
NM_001270447.1:c.1287G>T NP_001257376.1:p.Gln429His
NM_001270448.1:c.990G>T NP_001257377.1:p.Gln330His
XM_006721516.2:c.1218G>T XP_006721579.2:p.Gln406His
XM_011523829.1:c.1218G>T XP_011522131.1:p.Gln406His
XM_011523830.1:c.1218G>T XP_011522132.1:p.Gln406His
XR_934021.1:n.1325G>T
XR_934022.1:n.1325G>T
XR_934023.1:n.1325G>T
XM_006721516.3:c.1218G>T XP_006721579.2:p.Gln406His
XM_011523829.2:c.1218G>T XP_011522131.1:p.Gln406His
XM_011523830.2:c.1218G>T XP_011522132.1:p.Gln406His
XM_024450741.1:c.1218G>T XP_024306509.1:p.Gln406His
XR_934021.2:n.1277G>T
XR_934022.2:n.1277G>T
XR_934023.2:n.1277G>T
NM_000018.4:c.1218G>T MANE Select NP_000009.1:p.Gln406His
NM_001033859.3:c.1152G>T NP_001029031.1:p.Gln384His
NM_001270447.2:c.1287G>T NP_001257376.1:p.Gln429His
NM_001270448.2:c.990G>T NP_001257377.1:p.Gln330His
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