Canonical Allele Identifier: CA397723653
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 994245
ClinVar RCV Id: RCV001287279
dbSNP Id: rs2071264623
MyVariant Identifiers: chr17:g.7125513A>T (hg19) chr17:g.7222194A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222194A>T , CM000679.2:g.7222194A>T GRCh38
NC_000017.10:g.7125513A>T , CM000679.1:g.7125513A>T GRCh37
NC_000017.9:g.7066237A>T NCBI36
NG_007975.1:g.7361A>T
NG_008391.2:g.2857T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.770A>T MANE Select ENSP00000349297.5:p.Asp257Val
ENST00000322910.9:c.*725A>T ENSP00000325395.5:n.*725A>T
ENST00000350303.9:c.704A>T ENSP00000344152.5:p.Asp235Val
ENST00000356839.9:c.770A>T ENSP00000349297.5:p.Asp257Val
ENST00000543245.6:c.839A>T ENSP00000438689.2:p.Asp280Val
ENST00000577191.5:n.942A>T
ENST00000581378.5:c.488A>T
ENST00000582379.1:n.154A>T
NM_000018.3:c.770A>T NP_000009.1:p.Asp257Val
NM_001033859.2:c.704A>T NP_001029031.1:p.Asp235Val
NM_001270447.1:c.839A>T NP_001257376.1:p.Asp280Val
NM_001270448.1:c.542A>T NP_001257377.1:p.Asp181Val
XM_006721516.2:c.770A>T XP_006721579.2:p.Asp257Val
XM_011523829.1:c.770A>T XP_011522131.1:p.Asp257Val
XM_011523830.1:c.770A>T XP_011522132.1:p.Asp257Val
XR_934021.1:n.877A>T
XR_934022.1:n.877A>T
XR_934023.1:n.877A>T
XM_006721516.3:c.770A>T XP_006721579.2:p.Asp257Val
XM_011523829.2:c.770A>T XP_011522131.1:p.Asp257Val
XM_011523830.2:c.770A>T XP_011522132.1:p.Asp257Val
XM_024450741.1:c.770A>T XP_024306509.1:p.Asp257Val
XR_934021.2:n.829A>T
XR_934022.2:n.829A>T
XR_934023.2:n.829A>T
NM_000018.4:c.770A>T MANE Select NP_000009.1:p.Asp257Val
NM_001033859.3:c.704A>T NP_001029031.1:p.Asp235Val
NM_001270447.2:c.839A>T NP_001257376.1:p.Asp280Val
NM_001270448.2:c.542A>T NP_001257377.1:p.Asp181Val
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