Canonical Allele Identifier: CA397723258
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932789
ClinVar RCV Id: RCV001200733
dbSNP Id: rs1597525536
MyVariant Identifiers: chr17:g.7124981A>G (hg19) chr17:g.7221662A>G (hg38)
ERepo: CA397723258/MONDO:0008723/021
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221662A>G , CM000679.2:g.7221662A>G GRCh38
NC_000017.10:g.7124981A>G , CM000679.1:g.7124981A>G GRCh37
NC_000017.9:g.7065705A>G NCBI36
NG_007975.1:g.6829A>G
NG_008391.2:g.3389T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.602A>G MANE Select ENSP00000349297.5:p.Tyr201Cys
ENST00000322910.9:c.*557A>G ENSP00000325395.5:n.*557A>G
ENST00000350303.9:c.536A>G ENSP00000344152.5:p.Tyr179Cys
ENST00000356839.9:c.602A>G ENSP00000349297.5:p.Tyr201Cys
ENST00000543245.6:c.671A>G ENSP00000438689.2:p.Tyr224Cys
ENST00000577191.5:n.679A>G
ENST00000577857.5:n.418A>G
ENST00000579286.5:n.783A>G
ENST00000579886.2:c.440A>G ENSP00000463246.1:p.Tyr147Cys
ENST00000580365.1:n.333A>G
ENST00000581378.5:c.320A>G
ENST00000581562.5:n.525-290A>G
ENST00000583312.5:c.602A>G ENSP00000467920.1:p.Tyr201Cys
ENST00000583760.1:n.384A>G
NM_000018.3:c.602A>G NP_000009.1:p.Tyr201Cys
NM_001033859.2:c.536A>G NP_001029031.1:p.Tyr179Cys
NM_001270447.1:c.671A>G NP_001257376.1:p.Tyr224Cys
NM_001270448.1:c.374A>G NP_001257377.1:p.Tyr125Cys
XM_006721516.2:c.602A>G XP_006721579.2:p.Tyr201Cys
XM_011523829.1:c.602A>G XP_011522131.1:p.Tyr201Cys
XM_011523830.1:c.602A>G XP_011522132.1:p.Tyr201Cys
XR_934021.1:n.709A>G
XR_934022.1:n.709A>G
XR_934023.1:n.709A>G
XM_006721516.3:c.602A>G XP_006721579.2:p.Tyr201Cys
XM_011523829.2:c.602A>G XP_011522131.1:p.Tyr201Cys
XM_011523830.2:c.602A>G XP_011522132.1:p.Tyr201Cys
XM_024450741.1:c.602A>G XP_024306509.1:p.Tyr201Cys
XR_934021.2:n.661A>G
XR_934022.2:n.661A>G
XR_934023.2:n.661A>G
NM_000018.4:c.602A>G MANE Select NP_000009.1:p.Tyr201Cys
NM_001033859.3:c.536A>G NP_001029031.1:p.Tyr179Cys
NM_001270447.2:c.671A>G NP_001257376.1:p.Tyr224Cys
NM_001270448.2:c.374A>G NP_001257377.1:p.Tyr125Cys
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