Canonical Allele Identifier: CA397723738
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1475045
ClinVar RCV Id: RCV001973830 RCV003326603
dbSNP Id: rs2142977919
MyVariant Identifiers: chr17:g.7125554G>A (hg19) chr17:g.7222235G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222235G>A , CM000679.2:g.7222235G>A GRCh38
NC_000017.10:g.7125554G>A , CM000679.1:g.7125554G>A GRCh37
NC_000017.9:g.7066278G>A NCBI36
NG_007975.1:g.7402G>A
NG_008391.2:g.2816C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.811G>A MANE Select ENSP00000349297.5:p.Ala271Thr
ENST00000322910.9:c.*766G>A ENSP00000325395.5:n.*766G>A
ENST00000350303.9:c.745G>A ENSP00000344152.5:p.Ala249Thr
ENST00000356839.9:c.811G>A ENSP00000349297.5:p.Ala271Thr
ENST00000543245.6:c.880G>A ENSP00000438689.2:p.Ala294Thr
ENST00000577191.5:n.983G>A
ENST00000581378.5:c.529G>A
ENST00000582379.1:n.195G>A
NM_000018.3:c.811G>A NP_000009.1:p.Ala271Thr
NM_001033859.2:c.745G>A NP_001029031.1:p.Ala249Thr
NM_001270447.1:c.880G>A NP_001257376.1:p.Ala294Thr
NM_001270448.1:c.583G>A NP_001257377.1:p.Ala195Thr
XM_006721516.2:c.811G>A XP_006721579.2:p.Ala271Thr
XM_011523829.1:c.811G>A XP_011522131.1:p.Ala271Thr
XM_011523830.1:c.811G>A XP_011522132.1:p.Ala271Thr
XR_934021.1:n.918G>A
XR_934022.1:n.918G>A
XR_934023.1:n.918G>A
XM_006721516.3:c.811G>A XP_006721579.2:p.Ala271Thr
XM_011523829.2:c.811G>A XP_011522131.1:p.Ala271Thr
XM_011523830.2:c.811G>A XP_011522132.1:p.Ala271Thr
XM_024450741.1:c.811G>A XP_024306509.1:p.Ala271Thr
XR_934021.2:n.870G>A
XR_934022.2:n.870G>A
XR_934023.2:n.870G>A
NM_000018.4:c.811G>A MANE Select NP_000009.1:p.Ala271Thr
NM_001033859.3:c.745G>A NP_001029031.1:p.Ala249Thr
NM_001270447.2:c.880G>A NP_001257376.1:p.Ala294Thr
NM_001270448.2:c.583G>A NP_001257377.1:p.Ala195Thr
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