Canonical Allele Identifier: CA397724272
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 657040
ClinVar RCV Id: RCV000813585 RCV003226399
dbSNP Id: rs1351976589
gnomAD v2: 17-7126171-T-C
gnomAD v3: 17-7222852-T-C
gnomAD v4: 17-7222852-T-C
MyVariant Identifiers: chr17:g.7126171T>C (hg19) chr17:g.7222852T>C (hg38)
ERepo: CA397724272/MONDO:0008723/021
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222852T>C , CM000679.2:g.7222852T>C GRCh38
NC_000017.10:g.7126171T>C , CM000679.1:g.7126171T>C GRCh37
NC_000017.9:g.7066895T>C NCBI36
NG_007975.1:g.8019T>C
NG_008391.2:g.2199A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1064T>C MANE Select ENSP00000349297.5:p.Ile355Thr
ENST00000322910.9:c.*1019T>C ENSP00000325395.5:n.*1019T>C
ENST00000350303.9:c.998T>C ENSP00000344152.5:p.Ile333Thr
ENST00000356839.9:c.1064T>C ENSP00000349297.5:p.Ile355Thr
ENST00000543245.6:c.1133T>C ENSP00000438689.2:p.Ile378Thr
ENST00000578824.5:n.213T>C
ENST00000582379.1:n.448T>C
ENST00000583858.5:c.93T>C
ENST00000585203.6:n.5T>C
NM_000018.3:c.1064T>C NP_000009.1:p.Ile355Thr
NM_001033859.2:c.998T>C NP_001029031.1:p.Ile333Thr
NM_001270447.1:c.1133T>C NP_001257376.1:p.Ile378Thr
NM_001270448.1:c.836T>C NP_001257377.1:p.Ile279Thr
XM_006721516.2:c.1064T>C XP_006721579.2:p.Ile355Thr
XM_011523829.1:c.1064T>C XP_011522131.1:p.Ile355Thr
XM_011523830.1:c.1064T>C XP_011522132.1:p.Ile355Thr
XR_934021.1:n.1171T>C
XR_934022.1:n.1171T>C
XR_934023.1:n.1171T>C
XM_006721516.3:c.1064T>C XP_006721579.2:p.Ile355Thr
XM_011523829.2:c.1064T>C XP_011522131.1:p.Ile355Thr
XM_011523830.2:c.1064T>C XP_011522132.1:p.Ile355Thr
XM_024450741.1:c.1064T>C XP_024306509.1:p.Ile355Thr
XR_934021.2:n.1123T>C
XR_934022.2:n.1123T>C
XR_934023.2:n.1123T>C
NM_000018.4:c.1064T>C MANE Select NP_000009.1:p.Ile355Thr
NM_001033859.3:c.998T>C NP_001029031.1:p.Ile333Thr
NM_001270447.2:c.1133T>C NP_001257376.1:p.Ile378Thr
NM_001270448.2:c.836T>C NP_001257377.1:p.Ile279Thr
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