Canonical Allele Identifier: CA397723385
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125295T>C (hg19) chr17:g.7221976T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221976T>C , CM000679.2:g.7221976T>C GRCh38
NC_000017.10:g.7125295T>C , CM000679.1:g.7125295T>C GRCh37
NC_000017.9:g.7066019T>C NCBI36
NG_007975.1:g.7143T>C
NG_008391.2:g.3075A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.647T>C MANE Select ENSP00000349297.5:p.Leu216Pro
ENST00000322910.9:c.*602T>C ENSP00000325395.5:n.*602T>C
ENST00000350303.9:c.581T>C ENSP00000344152.5:p.Leu194Pro
ENST00000356839.9:c.647T>C ENSP00000349297.5:p.Leu216Pro
ENST00000543245.6:c.716T>C ENSP00000438689.2:p.Leu239Pro
ENST00000577191.5:n.724T>C
ENST00000577857.5:n.463T>C
ENST00000579286.5:n.828T>C
ENST00000580365.1:n.378T>C
ENST00000581378.5:c.365T>C
ENST00000581562.5:n.549T>C
ENST00000582379.1:n.31T>C
ENST00000583312.5:c.662T>C ENSP00000467920.1:p.Leu221Pro
ENST00000583760.1:n.429T>C
NM_000018.3:c.647T>C NP_000009.1:p.Leu216Pro
NM_001033859.2:c.581T>C NP_001029031.1:p.Leu194Pro
NM_001270447.1:c.716T>C NP_001257376.1:p.Leu239Pro
NM_001270448.1:c.419T>C NP_001257377.1:p.Leu140Pro
XM_006721516.2:c.647T>C XP_006721579.2:p.Leu216Pro
XM_011523829.1:c.647T>C XP_011522131.1:p.Leu216Pro
XM_011523830.1:c.647T>C XP_011522132.1:p.Leu216Pro
XR_934021.1:n.754T>C
XR_934022.1:n.754T>C
XR_934023.1:n.754T>C
XM_006721516.3:c.647T>C XP_006721579.2:p.Leu216Pro
XM_011523829.2:c.647T>C XP_011522131.1:p.Leu216Pro
XM_011523830.2:c.647T>C XP_011522132.1:p.Leu216Pro
XM_024450741.1:c.647T>C XP_024306509.1:p.Leu216Pro
XR_934021.2:n.706T>C
XR_934022.2:n.706T>C
XR_934023.2:n.706T>C
NM_000018.4:c.647T>C MANE Select NP_000009.1:p.Leu216Pro
NM_001033859.3:c.581T>C NP_001029031.1:p.Leu194Pro
NM_001270447.2:c.716T>C NP_001257376.1:p.Leu239Pro
NM_001270448.2:c.419T>C NP_001257377.1:p.Leu140Pro
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