Canonical Allele Identifier: CA397723434
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125319A>G (hg19) chr17:g.7222000A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222000A>G , CM000679.2:g.7222000A>G GRCh38
NC_000017.10:g.7125319A>G , CM000679.1:g.7125319A>G GRCh37
NC_000017.9:g.7066043A>G NCBI36
NG_007975.1:g.7167A>G
NG_008391.2:g.3051T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.671A>G MANE Select ENSP00000349297.5:p.Asp224Gly
ENST00000322910.9:c.*626A>G ENSP00000325395.5:n.*626A>G
ENST00000350303.9:c.605A>G ENSP00000344152.5:p.Asp202Gly
ENST00000356839.9:c.671A>G ENSP00000349297.5:p.Asp224Gly
ENST00000543245.6:c.740A>G ENSP00000438689.2:p.Asp247Gly
ENST00000577191.5:n.748A>G
ENST00000577857.5:n.487A>G
ENST00000579286.5:n.852A>G
ENST00000580365.1:n.402A>G
ENST00000581378.5:c.389A>G
ENST00000582379.1:n.55A>G
ENST00000583760.1:n.453A>G
NM_000018.3:c.671A>G NP_000009.1:p.Asp224Gly
NM_001033859.2:c.605A>G NP_001029031.1:p.Asp202Gly
NM_001270447.1:c.740A>G NP_001257376.1:p.Asp247Gly
NM_001270448.1:c.443A>G NP_001257377.1:p.Asp148Gly
XM_006721516.2:c.671A>G XP_006721579.2:p.Asp224Gly
XM_011523829.1:c.671A>G XP_011522131.1:p.Asp224Gly
XM_011523830.1:c.671A>G XP_011522132.1:p.Asp224Gly
XR_934021.1:n.778A>G
XR_934022.1:n.778A>G
XR_934023.1:n.778A>G
XM_006721516.3:c.671A>G XP_006721579.2:p.Asp224Gly
XM_011523829.2:c.671A>G XP_011522131.1:p.Asp224Gly
XM_011523830.2:c.671A>G XP_011522132.1:p.Asp224Gly
XM_024450741.1:c.671A>G XP_024306509.1:p.Asp224Gly
XR_934021.2:n.730A>G
XR_934022.2:n.730A>G
XR_934023.2:n.730A>G
NM_000018.4:c.671A>G MANE Select NP_000009.1:p.Asp224Gly
NM_001033859.3:c.605A>G NP_001029031.1:p.Asp202Gly
NM_001270447.2:c.740A>G NP_001257376.1:p.Asp247Gly
NM_001270448.2:c.443A>G NP_001257377.1:p.Asp148Gly
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