Canonical Allele Identifier: CA397723952
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126017G>T (hg19) chr17:g.7222698G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222698G>T , CM000679.2:g.7222698G>T GRCh38
NC_000017.10:g.7126017G>T , CM000679.1:g.7126017G>T GRCh37
NC_000017.9:g.7066741G>T NCBI36
NG_007975.1:g.7865G>T
NG_008391.2:g.2353C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.910G>T MANE Select ENSP00000349297.5:p.Ala304Ser
ENST00000322910.9:c.*865G>T ENSP00000325395.5:n.*865G>T
ENST00000350303.9:c.844G>T ENSP00000344152.5:p.Ala282Ser
ENST00000356839.9:c.910G>T ENSP00000349297.5:p.Ala304Ser
ENST00000543245.6:c.979G>T ENSP00000438689.2:p.Ala327Ser
ENST00000578824.5:n.59G>T
ENST00000581378.5:c.628G>T
ENST00000582379.1:n.294G>T
NM_000018.3:c.910G>T NP_000009.1:p.Ala304Ser
NM_001033859.2:c.844G>T NP_001029031.1:p.Ala282Ser
NM_001270447.1:c.979G>T NP_001257376.1:p.Ala327Ser
NM_001270448.1:c.682G>T NP_001257377.1:p.Ala228Ser
XM_006721516.2:c.910G>T XP_006721579.2:p.Ala304Ser
XM_011523829.1:c.910G>T XP_011522131.1:p.Ala304Ser
XM_011523830.1:c.910G>T XP_011522132.1:p.Ala304Ser
XR_934021.1:n.1017G>T
XR_934022.1:n.1017G>T
XR_934023.1:n.1017G>T
XM_006721516.3:c.910G>T XP_006721579.2:p.Ala304Ser
XM_011523829.2:c.910G>T XP_011522131.1:p.Ala304Ser
XM_011523830.2:c.910G>T XP_011522132.1:p.Ala304Ser
XM_024450741.1:c.910G>T XP_024306509.1:p.Ala304Ser
XR_934021.2:n.969G>T
XR_934022.2:n.969G>T
XR_934023.2:n.969G>T
NM_000018.4:c.910G>T MANE Select NP_000009.1:p.Ala304Ser
NM_001033859.3:c.844G>T NP_001029031.1:p.Ala282Ser
NM_001270447.2:c.979G>T NP_001257376.1:p.Ala327Ser
NM_001270448.2:c.682G>T NP_001257377.1:p.Ala228Ser
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