Canonical Allele Identifier: CA497619987
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125592G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222273G>T , CM000679.2:g.7222273G>T GRCh38
NC_000017.10:g.7125592G>T , CM000679.1:g.7125592G>T GRCh37
NC_000017.9:g.7066316G>T NCBI36
NG_007975.1:g.7440G>T
NG_008391.2:g.2778C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.849G>T MANE Select ENSP00000349297.5:p.Val283=
ENST00000322910.9:c.*804G>T ENSP00000325395.5:n.*804G>T
ENST00000350303.9:c.783G>T ENSP00000344152.5:p.Val261=
ENST00000356839.9:c.849G>T ENSP00000349297.5:p.Val283=
ENST00000543245.6:c.918G>T ENSP00000438689.2:p.Val306=
ENST00000577191.5:n.1021G>T
ENST00000581378.5:c.567G>T
ENST00000582379.1:n.233G>T
NM_000018.3:c.849G>T NP_000009.1:p.Val283=
NM_001033859.2:c.783G>T NP_001029031.1:p.Val261=
NM_001270447.1:c.918G>T NP_001257376.1:p.Val306=
NM_001270448.1:c.621G>T NP_001257377.1:p.Val207=
XM_006721516.2:c.849G>T XP_006721579.2:p.Val283=
XM_011523829.1:c.849G>T XP_011522131.1:p.Val283=
XM_011523830.1:c.849G>T XP_011522132.1:p.Val283=
XR_934021.1:n.956G>T
XR_934022.1:n.956G>T
XR_934023.1:n.956G>T
XM_006721516.3:c.849G>T XP_006721579.2:p.Val283=
XM_011523829.2:c.849G>T XP_011522131.1:p.Val283=
XM_011523830.2:c.849G>T XP_011522132.1:p.Val283=
XM_024450741.1:c.849G>T XP_024306509.1:p.Val283=
XR_934021.2:n.908G>T
XR_934022.2:n.908G>T
XR_934023.2:n.908G>T
NM_000018.4:c.849G>T MANE Select NP_000009.1:p.Val283=
NM_001033859.3:c.783G>T NP_001029031.1:p.Val261=
NM_001270447.2:c.918G>T NP_001257376.1:p.Val306=
NM_001270448.2:c.621G>T NP_001257377.1:p.Val207=
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