Canonical Allele Identifier: CA397723732
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125551C>A (hg19) chr17:g.7222232C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222232C>A , CM000679.2:g.7222232C>A GRCh38
NC_000017.10:g.7125551C>A , CM000679.1:g.7125551C>A GRCh37
NC_000017.9:g.7066275C>A NCBI36
NG_007975.1:g.7399C>A
NG_008391.2:g.2819G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.808C>A MANE Select ENSP00000349297.5:p.Pro270Thr
ENST00000322910.9:c.*763C>A ENSP00000325395.5:n.*763C>A
ENST00000350303.9:c.742C>A ENSP00000344152.5:p.Pro248Thr
ENST00000356839.9:c.808C>A ENSP00000349297.5:p.Pro270Thr
ENST00000543245.6:c.877C>A ENSP00000438689.2:p.Pro293Thr
ENST00000577191.5:n.980C>A
ENST00000581378.5:c.526C>A
ENST00000582379.1:n.192C>A
NM_000018.3:c.808C>A NP_000009.1:p.Pro270Thr
NM_001033859.2:c.742C>A NP_001029031.1:p.Pro248Thr
NM_001270447.1:c.877C>A NP_001257376.1:p.Pro293Thr
NM_001270448.1:c.580C>A NP_001257377.1:p.Pro194Thr
XM_006721516.2:c.808C>A XP_006721579.2:p.Pro270Thr
XM_011523829.1:c.808C>A XP_011522131.1:p.Pro270Thr
XM_011523830.1:c.808C>A XP_011522132.1:p.Pro270Thr
XR_934021.1:n.915C>A
XR_934022.1:n.915C>A
XR_934023.1:n.915C>A
XM_006721516.3:c.808C>A XP_006721579.2:p.Pro270Thr
XM_011523829.2:c.808C>A XP_011522131.1:p.Pro270Thr
XM_011523830.2:c.808C>A XP_011522132.1:p.Pro270Thr
XM_024450741.1:c.808C>A XP_024306509.1:p.Pro270Thr
XR_934021.2:n.867C>A
XR_934022.2:n.867C>A
XR_934023.2:n.867C>A
NM_000018.4:c.808C>A MANE Select NP_000009.1:p.Pro270Thr
NM_001033859.3:c.742C>A NP_001029031.1:p.Pro248Thr
NM_001270447.2:c.877C>A NP_001257376.1:p.Pro293Thr
NM_001270448.2:c.580C>A NP_001257377.1:p.Pro194Thr
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