Canonical Allele Identifier: CA397723381
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125293T>G (hg19) chr17:g.7221974T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221974T>G , CM000679.2:g.7221974T>G GRCh38
NC_000017.10:g.7125293T>G , CM000679.1:g.7125293T>G GRCh37
NC_000017.9:g.7066017T>G NCBI36
NG_007975.1:g.7141T>G
NG_008391.2:g.3077A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.645T>G MANE Select ENSP00000349297.5:p.Cys215Trp
ENST00000322910.9:c.*600T>G ENSP00000325395.5:n.*600T>G
ENST00000350303.9:c.579T>G ENSP00000344152.5:p.Cys193Trp
ENST00000356839.9:c.645T>G ENSP00000349297.5:p.Cys215Trp
ENST00000543245.6:c.714T>G ENSP00000438689.2:p.Cys238Trp
ENST00000577191.5:n.722T>G
ENST00000577857.5:n.461T>G
ENST00000579286.5:n.826T>G
ENST00000580365.1:n.376T>G
ENST00000581378.5:c.363T>G
ENST00000581562.5:n.547T>G
ENST00000582379.1:n.29T>G
ENST00000583312.5:c.660T>G ENSP00000467920.1:p.Cys220Trp
ENST00000583760.1:n.427T>G
NM_000018.3:c.645T>G NP_000009.1:p.Cys215Trp
NM_001033859.2:c.579T>G NP_001029031.1:p.Cys193Trp
NM_001270447.1:c.714T>G NP_001257376.1:p.Cys238Trp
NM_001270448.1:c.417T>G NP_001257377.1:p.Cys139Trp
XM_006721516.2:c.645T>G XP_006721579.2:p.Cys215Trp
XM_011523829.1:c.645T>G XP_011522131.1:p.Cys215Trp
XM_011523830.1:c.645T>G XP_011522132.1:p.Cys215Trp
XR_934021.1:n.752T>G
XR_934022.1:n.752T>G
XR_934023.1:n.752T>G
XM_006721516.3:c.645T>G XP_006721579.2:p.Cys215Trp
XM_011523829.2:c.645T>G XP_011522131.1:p.Cys215Trp
XM_011523830.2:c.645T>G XP_011522132.1:p.Cys215Trp
XM_024450741.1:c.645T>G XP_024306509.1:p.Cys215Trp
XR_934021.2:n.704T>G
XR_934022.2:n.704T>G
XR_934023.2:n.704T>G
NM_000018.4:c.645T>G MANE Select NP_000009.1:p.Cys215Trp
NM_001033859.3:c.579T>G NP_001029031.1:p.Cys193Trp
NM_001270447.2:c.714T>G NP_001257376.1:p.Cys238Trp
NM_001270448.2:c.417T>G NP_001257377.1:p.Cys139Trp
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