Canonical Allele Identifier: CA397724182
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126129G>T (hg19) chr17:g.7222810G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222810G>T , CM000679.2:g.7222810G>T GRCh38
NC_000017.10:g.7126129G>T , CM000679.1:g.7126129G>T GRCh37
NC_000017.9:g.7066853G>T NCBI36
NG_007975.1:g.7977G>T
NG_008391.2:g.2241C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1022G>T MANE Select ENSP00000349297.5:p.Arg341Met
ENST00000322910.9:c.*977G>T ENSP00000325395.5:n.*977G>T
ENST00000350303.9:c.956G>T ENSP00000344152.5:p.Arg319Met
ENST00000356839.9:c.1022G>T ENSP00000349297.5:p.Arg341Met
ENST00000543245.6:c.1091G>T ENSP00000438689.2:p.Arg364Met
ENST00000578824.5:n.171G>T
ENST00000581378.5:c.740G>T
ENST00000582379.1:n.406G>T
ENST00000583858.5:c.51G>T
NM_000018.3:c.1022G>T NP_000009.1:p.Arg341Met
NM_001033859.2:c.956G>T NP_001029031.1:p.Arg319Met
NM_001270447.1:c.1091G>T NP_001257376.1:p.Arg364Met
NM_001270448.1:c.794G>T NP_001257377.1:p.Arg265Met
XM_006721516.2:c.1022G>T XP_006721579.2:p.Arg341Met
XM_011523829.1:c.1022G>T XP_011522131.1:p.Arg341Met
XM_011523830.1:c.1022G>T XP_011522132.1:p.Arg341Met
XR_934021.1:n.1129G>T
XR_934022.1:n.1129G>T
XR_934023.1:n.1129G>T
XM_006721516.3:c.1022G>T XP_006721579.2:p.Arg341Met
XM_011523829.2:c.1022G>T XP_011522131.1:p.Arg341Met
XM_011523830.2:c.1022G>T XP_011522132.1:p.Arg341Met
XM_024450741.1:c.1022G>T XP_024306509.1:p.Arg341Met
XR_934021.2:n.1081G>T
XR_934022.2:n.1081G>T
XR_934023.2:n.1081G>T
NM_000018.4:c.1022G>T MANE Select NP_000009.1:p.Arg341Met
NM_001033859.3:c.956G>T NP_001029031.1:p.Arg319Met
NM_001270447.2:c.1091G>T NP_001257376.1:p.Arg364Met
NM_001270448.2:c.794G>T NP_001257377.1:p.Arg265Met
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