Canonical Allele Identifier: CA397723598
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125397T>C (hg19) chr17:g.7222078T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222078T>C , CM000679.2:g.7222078T>C GRCh38
NC_000017.10:g.7125397T>C , CM000679.1:g.7125397T>C GRCh37
NC_000017.9:g.7066121T>C NCBI36
NG_007975.1:g.7245T>C
NG_008391.2:g.2973A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.749T>C MANE Select ENSP00000349297.5:p.Ile250Thr
ENST00000322910.9:c.*704T>C ENSP00000325395.5:n.*704T>C
ENST00000350303.9:c.683T>C ENSP00000344152.5:p.Ile228Thr
ENST00000356839.9:c.749T>C ENSP00000349297.5:p.Ile250Thr
ENST00000543245.6:c.818T>C ENSP00000438689.2:p.Ile273Thr
ENST00000577191.5:n.826T>C
ENST00000577857.5:n.565T>C
ENST00000579286.5:n.930T>C
ENST00000580365.1:n.480T>C
ENST00000581378.5:c.467T>C
ENST00000582379.1:n.133T>C
ENST00000583760.1:n.531T>C
NM_000018.3:c.749T>C NP_000009.1:p.Ile250Thr
NM_001033859.2:c.683T>C NP_001029031.1:p.Ile228Thr
NM_001270447.1:c.818T>C NP_001257376.1:p.Ile273Thr
NM_001270448.1:c.521T>C NP_001257377.1:p.Ile174Thr
XM_006721516.2:c.749T>C XP_006721579.2:p.Ile250Thr
XM_011523829.1:c.749T>C XP_011522131.1:p.Ile250Thr
XM_011523830.1:c.749T>C XP_011522132.1:p.Ile250Thr
XR_934021.1:n.856T>C
XR_934022.1:n.856T>C
XR_934023.1:n.856T>C
XM_006721516.3:c.749T>C XP_006721579.2:p.Ile250Thr
XM_011523829.2:c.749T>C XP_011522131.1:p.Ile250Thr
XM_011523830.2:c.749T>C XP_011522132.1:p.Ile250Thr
XM_024450741.1:c.749T>C XP_024306509.1:p.Ile250Thr
XR_934021.2:n.808T>C
XR_934022.2:n.808T>C
XR_934023.2:n.808T>C
NM_000018.4:c.749T>C MANE Select NP_000009.1:p.Ile250Thr
NM_001033859.3:c.683T>C NP_001029031.1:p.Ile228Thr
NM_001270447.2:c.818T>C NP_001257376.1:p.Ile273Thr
NM_001270448.2:c.521T>C NP_001257377.1:p.Ile174Thr
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