Canonical Allele Identifier: CA275413
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 198683
ClinVar RCV Id: RCV000180089 RCV000723371 RCV002515289
dbSNP Id: rs140629318
ExAC: 17:7125285 G / A
gnomAD v2: 17-7125285-G-A
gnomAD v3: 17-7221966-G-A
gnomAD v4: 17-7221966-G-A
COSMIC: COSM3403177
MyVariant Identifiers: chr17:g.7125285G>A (hg19) chr17:g.7221966G>A (hg38)
ERepo: CA275413/MONDO:0008723/021
PubMed: PMID:10077518 PMID:12213615 PMID:23891399 PMID:24801231
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221966G>A , CM000679.2:g.7221966G>A GRCh38
NC_000017.10:g.7125285G>A , CM000679.1:g.7125285G>A GRCh37
NC_000017.9:g.7066009G>A NCBI36
NG_007975.1:g.7133G>A
NG_008391.2:g.3085C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.637G>A MANE Select ENSP00000349297.5:p.Ala213Thr
ENST00000322910.9:c.*592G>A ENSP00000325395.5:n.*592G>A
ENST00000350303.9:c.571G>A ENSP00000344152.5:p.Ala191Thr
ENST00000356839.9:c.637G>A ENSP00000349297.5:p.Ala213Thr
ENST00000543245.6:c.706G>A ENSP00000438689.2:p.Ala236Thr
ENST00000577191.5:n.714G>A
ENST00000577857.5:n.453G>A
ENST00000579286.5:n.818G>A
ENST00000580365.1:n.368G>A
ENST00000581378.5:c.355G>A
ENST00000581562.5:n.539G>A
ENST00000582379.1:n.21G>A
ENST00000583312.5:c.652G>A ENSP00000467920.1:p.Ala218Thr
ENST00000583760.1:n.419G>A
NM_000018.3:c.637G>A NP_000009.1:p.Ala213Thr
NM_001033859.2:c.571G>A NP_001029031.1:p.Ala191Thr
NM_001270447.1:c.706G>A NP_001257376.1:p.Ala236Thr
NM_001270448.1:c.409G>A NP_001257377.1:p.Ala137Thr
XM_006721516.2:c.637G>A XP_006721579.2:p.Ala213Thr
XM_011523829.1:c.637G>A XP_011522131.1:p.Ala213Thr
XM_011523830.1:c.637G>A XP_011522132.1:p.Ala213Thr
XR_934021.1:n.744G>A
XR_934022.1:n.744G>A
XR_934023.1:n.744G>A
XM_006721516.3:c.637G>A XP_006721579.2:p.Ala213Thr
XM_011523829.2:c.637G>A XP_011522131.1:p.Ala213Thr
XM_011523830.2:c.637G>A XP_011522132.1:p.Ala213Thr
XM_024450741.1:c.637G>A XP_024306509.1:p.Ala213Thr
XR_934021.2:n.696G>A
XR_934022.2:n.696G>A
XR_934023.2:n.696G>A
NM_000018.4:c.637G>A MANE Select NP_000009.1:p.Ala213Thr
NM_001033859.3:c.571G>A NP_001029031.1:p.Ala191Thr
NM_001270447.2:c.706G>A NP_001257376.1:p.Ala236Thr
NM_001270448.2:c.409G>A NP_001257377.1:p.Ala137Thr
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