Canonical Allele Identifier: CA397723759
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125564C>G (hg19) chr17:g.7222245C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222245C>G , CM000679.2:g.7222245C>G GRCh38
NC_000017.10:g.7125564C>G , CM000679.1:g.7125564C>G GRCh37
NC_000017.9:g.7066288C>G NCBI36
NG_007975.1:g.7412C>G
NG_008391.2:g.2806G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.821C>G MANE Select ENSP00000349297.5:p.Ala274Gly
ENST00000322910.9:c.*776C>G ENSP00000325395.5:n.*776C>G
ENST00000350303.9:c.755C>G ENSP00000344152.5:p.Ala252Gly
ENST00000356839.9:c.821C>G ENSP00000349297.5:p.Ala274Gly
ENST00000543245.6:c.890C>G ENSP00000438689.2:p.Ala297Gly
ENST00000577191.5:n.993C>G
ENST00000581378.5:c.539C>G
ENST00000582379.1:n.205C>G
NM_000018.3:c.821C>G NP_000009.1:p.Ala274Gly
NM_001033859.2:c.755C>G NP_001029031.1:p.Ala252Gly
NM_001270447.1:c.890C>G NP_001257376.1:p.Ala297Gly
NM_001270448.1:c.593C>G NP_001257377.1:p.Ala198Gly
XM_006721516.2:c.821C>G XP_006721579.2:p.Ala274Gly
XM_011523829.1:c.821C>G XP_011522131.1:p.Ala274Gly
XM_011523830.1:c.821C>G XP_011522132.1:p.Ala274Gly
XR_934021.1:n.928C>G
XR_934022.1:n.928C>G
XR_934023.1:n.928C>G
XM_006721516.3:c.821C>G XP_006721579.2:p.Ala274Gly
XM_011523829.2:c.821C>G XP_011522131.1:p.Ala274Gly
XM_011523830.2:c.821C>G XP_011522132.1:p.Ala274Gly
XM_024450741.1:c.821C>G XP_024306509.1:p.Ala274Gly
XR_934021.2:n.880C>G
XR_934022.2:n.880C>G
XR_934023.2:n.880C>G
NM_000018.4:c.821C>G MANE Select NP_000009.1:p.Ala274Gly
NM_001033859.3:c.755C>G NP_001029031.1:p.Ala252Gly
NM_001270447.2:c.890C>G NP_001257376.1:p.Ala297Gly
NM_001270448.2:c.593C>G NP_001257377.1:p.Ala198Gly
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