Canonical Allele Identifier: CA397723716
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125543T>A (hg19) chr17:g.7222224T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222224T>A , CM000679.2:g.7222224T>A GRCh38
NC_000017.10:g.7125543T>A , CM000679.1:g.7125543T>A GRCh37
NC_000017.9:g.7066267T>A NCBI36
NG_007975.1:g.7391T>A
NG_008391.2:g.2827A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.800T>A MANE Select ENSP00000349297.5:p.Val267Asp
ENST00000322910.9:c.*755T>A ENSP00000325395.5:n.*755T>A
ENST00000350303.9:c.734T>A ENSP00000344152.5:p.Val245Asp
ENST00000356839.9:c.800T>A ENSP00000349297.5:p.Val267Asp
ENST00000543245.6:c.869T>A ENSP00000438689.2:p.Val290Asp
ENST00000577191.5:n.972T>A
ENST00000581378.5:c.518T>A
ENST00000582379.1:n.184T>A
NM_000018.3:c.800T>A NP_000009.1:p.Val267Asp
NM_001033859.2:c.734T>A NP_001029031.1:p.Val245Asp
NM_001270447.1:c.869T>A NP_001257376.1:p.Val290Asp
NM_001270448.1:c.572T>A NP_001257377.1:p.Val191Asp
XM_006721516.2:c.800T>A XP_006721579.2:p.Val267Asp
XM_011523829.1:c.800T>A XP_011522131.1:p.Val267Asp
XM_011523830.1:c.800T>A XP_011522132.1:p.Val267Asp
XR_934021.1:n.907T>A
XR_934022.1:n.907T>A
XR_934023.1:n.907T>A
XM_006721516.3:c.800T>A XP_006721579.2:p.Val267Asp
XM_011523829.2:c.800T>A XP_011522131.1:p.Val267Asp
XM_011523830.2:c.800T>A XP_011522132.1:p.Val267Asp
XM_024450741.1:c.800T>A XP_024306509.1:p.Val267Asp
XR_934021.2:n.859T>A
XR_934022.2:n.859T>A
XR_934023.2:n.859T>A
NM_000018.4:c.800T>A MANE Select NP_000009.1:p.Val267Asp
NM_001033859.3:c.734T>A NP_001029031.1:p.Val245Asp
NM_001270447.2:c.869T>A NP_001257376.1:p.Val290Asp
NM_001270448.2:c.572T>A NP_001257377.1:p.Val191Asp
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