Canonical Allele Identifier: CA397724023
Gene: ACADVL HGNC NCBI

Linked Data

COSMIC: COSM5725933
MyVariant Identifiers: chr17:g.7126050G>A (hg19) chr17:g.7222731G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222731G>A , CM000679.2:g.7222731G>A GRCh38
NC_000017.10:g.7126050G>A , CM000679.1:g.7126050G>A GRCh37
NC_000017.9:g.7066774G>A NCBI36
NG_007975.1:g.7898G>A
NG_008391.2:g.2320C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.943G>A MANE Select ENSP00000349297.5:p.Val315Ile
ENST00000322910.9:c.*898G>A ENSP00000325395.5:n.*898G>A
ENST00000350303.9:c.877G>A ENSP00000344152.5:p.Val293Ile
ENST00000356839.9:c.943G>A ENSP00000349297.5:p.Val315Ile
ENST00000543245.6:c.1012G>A ENSP00000438689.2:p.Val338Ile
ENST00000578824.5:n.92G>A
ENST00000581378.5:c.661G>A
ENST00000582379.1:n.327G>A
NM_000018.3:c.943G>A NP_000009.1:p.Val315Ile
NM_001033859.2:c.877G>A NP_001029031.1:p.Val293Ile
NM_001270447.1:c.1012G>A NP_001257376.1:p.Val338Ile
NM_001270448.1:c.715G>A NP_001257377.1:p.Val239Ile
XM_006721516.2:c.943G>A XP_006721579.2:p.Val315Ile
XM_011523829.1:c.943G>A XP_011522131.1:p.Val315Ile
XM_011523830.1:c.943G>A XP_011522132.1:p.Val315Ile
XR_934021.1:n.1050G>A
XR_934022.1:n.1050G>A
XR_934023.1:n.1050G>A
XM_006721516.3:c.943G>A XP_006721579.2:p.Val315Ile
XM_011523829.2:c.943G>A XP_011522131.1:p.Val315Ile
XM_011523830.2:c.943G>A XP_011522132.1:p.Val315Ile
XM_024450741.1:c.943G>A XP_024306509.1:p.Val315Ile
XR_934021.2:n.1002G>A
XR_934022.2:n.1002G>A
XR_934023.2:n.1002G>A
NM_000018.4:c.943G>A MANE Select NP_000009.1:p.Val315Ile
NM_001033859.3:c.877G>A NP_001029031.1:p.Val293Ile
NM_001270447.2:c.1012G>A NP_001257376.1:p.Val338Ile
NM_001270448.2:c.715G>A NP_001257377.1:p.Val239Ile
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