Canonical Allele Identifier: CA397723283
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7124995G>C (hg19) chr17:g.7221676G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221676G>C , CM000679.2:g.7221676G>C GRCh38
NC_000017.10:g.7124995G>C , CM000679.1:g.7124995G>C GRCh37
NC_000017.9:g.7065719G>C NCBI36
NG_007975.1:g.6843G>C
NG_008391.2:g.3375C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.616G>C MANE Select ENSP00000349297.5:p.Ala206Pro
ENST00000322910.9:c.*571G>C ENSP00000325395.5:n.*571G>C
ENST00000350303.9:c.550G>C ENSP00000344152.5:p.Ala184Pro
ENST00000356839.9:c.616G>C ENSP00000349297.5:p.Ala206Pro
ENST00000543245.6:c.685G>C ENSP00000438689.2:p.Ala229Pro
ENST00000577191.5:n.693G>C
ENST00000577857.5:n.432G>C
ENST00000579286.5:n.797G>C
ENST00000579886.2:c.454G>C ENSP00000463246.1:p.Ala152Pro
ENST00000580365.1:n.347G>C
ENST00000581378.5:c.334G>C
ENST00000581562.5:n.525-276G>C
ENST00000583312.5:c.616G>C ENSP00000467920.1:p.Ala206Pro
ENST00000583760.1:n.398G>C
NM_000018.3:c.616G>C NP_000009.1:p.Ala206Pro
NM_001033859.2:c.550G>C NP_001029031.1:p.Ala184Pro
NM_001270447.1:c.685G>C NP_001257376.1:p.Ala229Pro
NM_001270448.1:c.388G>C NP_001257377.1:p.Ala130Pro
XM_006721516.2:c.616G>C XP_006721579.2:p.Ala206Pro
XM_011523829.1:c.616G>C XP_011522131.1:p.Ala206Pro
XM_011523830.1:c.616G>C XP_011522132.1:p.Ala206Pro
XR_934021.1:n.723G>C
XR_934022.1:n.723G>C
XR_934023.1:n.723G>C
XM_006721516.3:c.616G>C XP_006721579.2:p.Ala206Pro
XM_011523829.2:c.616G>C XP_011522131.1:p.Ala206Pro
XM_011523830.2:c.616G>C XP_011522132.1:p.Ala206Pro
XM_024450741.1:c.616G>C XP_024306509.1:p.Ala206Pro
XR_934021.2:n.675G>C
XR_934022.2:n.675G>C
XR_934023.2:n.675G>C
NM_000018.4:c.616G>C MANE Select NP_000009.1:p.Ala206Pro
NM_001033859.3:c.550G>C NP_001029031.1:p.Ala184Pro
NM_001270447.2:c.685G>C NP_001257376.1:p.Ala229Pro
NM_001270448.2:c.388G>C NP_001257377.1:p.Ala130Pro
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