Canonical Allele Identifier: CA397723446
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125324G>T (hg19) chr17:g.7222005G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222005G>T , CM000679.2:g.7222005G>T GRCh38
NC_000017.10:g.7125324G>T , CM000679.1:g.7125324G>T GRCh37
NC_000017.9:g.7066048G>T NCBI36
NG_007975.1:g.7172G>T
NG_008391.2:g.3046C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.676G>T MANE Select ENSP00000349297.5:p.Ala226Ser
ENST00000322910.9:c.*631G>T ENSP00000325395.5:n.*631G>T
ENST00000350303.9:c.610G>T ENSP00000344152.5:p.Ala204Ser
ENST00000356839.9:c.676G>T ENSP00000349297.5:p.Ala226Ser
ENST00000543245.6:c.745G>T ENSP00000438689.2:p.Ala249Ser
ENST00000577191.5:n.753G>T
ENST00000577857.5:n.492G>T
ENST00000579286.5:n.857G>T
ENST00000580365.1:n.407G>T
ENST00000581378.5:c.394G>T
ENST00000582379.1:n.60G>T
ENST00000583760.1:n.458G>T
NM_000018.3:c.676G>T NP_000009.1:p.Ala226Ser
NM_001033859.2:c.610G>T NP_001029031.1:p.Ala204Ser
NM_001270447.1:c.745G>T NP_001257376.1:p.Ala249Ser
NM_001270448.1:c.448G>T NP_001257377.1:p.Ala150Ser
XM_006721516.2:c.676G>T XP_006721579.2:p.Ala226Ser
XM_011523829.1:c.676G>T XP_011522131.1:p.Ala226Ser
XM_011523830.1:c.676G>T XP_011522132.1:p.Ala226Ser
XR_934021.1:n.783G>T
XR_934022.1:n.783G>T
XR_934023.1:n.783G>T
XM_006721516.3:c.676G>T XP_006721579.2:p.Ala226Ser
XM_011523829.2:c.676G>T XP_011522131.1:p.Ala226Ser
XM_011523830.2:c.676G>T XP_011522132.1:p.Ala226Ser
XM_024450741.1:c.676G>T XP_024306509.1:p.Ala226Ser
XR_934021.2:n.735G>T
XR_934022.2:n.735G>T
XR_934023.2:n.735G>T
NM_000018.4:c.676G>T MANE Select NP_000009.1:p.Ala226Ser
NM_001033859.3:c.610G>T NP_001029031.1:p.Ala204Ser
NM_001270447.2:c.745G>T NP_001257376.1:p.Ala249Ser
NM_001270448.2:c.448G>T NP_001257377.1:p.Ala150Ser
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