Canonical Allele Identifier: CA397723433
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125319A>C (hg19) chr17:g.7222000A>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.671A>C MANE Select ENSP00000349297.5:p.Asp224Ala
ENST00000322910.9:c.*626A>C ENSP00000325395.5:n.*626A>C
ENST00000350303.9:c.605A>C ENSP00000344152.5:p.Asp202Ala
ENST00000356839.9:c.671A>C ENSP00000349297.5:p.Asp224Ala
ENST00000543245.6:c.740A>C ENSP00000438689.2:p.Asp247Ala
ENST00000577191.5:n.748A>C
ENST00000577857.5:n.487A>C
ENST00000579286.5:n.852A>C
ENST00000580365.1:n.402A>C
ENST00000581378.5:c.389A>C
ENST00000582379.1:n.55A>C
ENST00000583760.1:n.453A>C
NM_000018.3:c.671A>C NP_000009.1:p.Asp224Ala
NM_001033859.2:c.605A>C NP_001029031.1:p.Asp202Ala
NM_001270447.1:c.740A>C NP_001257376.1:p.Asp247Ala
NM_001270448.1:c.443A>C NP_001257377.1:p.Asp148Ala
XM_006721516.2:c.671A>C XP_006721579.2:p.Asp224Ala
XM_011523829.1:c.671A>C XP_011522131.1:p.Asp224Ala
XM_011523830.1:c.671A>C XP_011522132.1:p.Asp224Ala
XR_934021.1:n.778A>C
XR_934022.1:n.778A>C
XR_934023.1:n.778A>C
XM_006721516.3:c.671A>C XP_006721579.2:p.Asp224Ala
XM_011523829.2:c.671A>C XP_011522131.1:p.Asp224Ala
XM_011523830.2:c.671A>C XP_011522132.1:p.Asp224Ala
XM_024450741.1:c.671A>C XP_024306509.1:p.Asp224Ala
XR_934021.2:n.730A>C
XR_934022.2:n.730A>C
XR_934023.2:n.730A>C
NM_000018.4:c.671A>C MANE Select NP_000009.1:p.Asp224Ala
NM_001033859.3:c.605A>C NP_001029031.1:p.Asp202Ala
NM_001270447.2:c.740A>C NP_001257376.1:p.Asp247Ala
NM_001270448.2:c.443A>C NP_001257377.1:p.Asp148Ala
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