Canonical Allele Identifier: CA312292
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1555528466
gnomAD v3: 17-7222715-G-C
gnomAD v4: 17-7222715-G-C
MyVariant Identifiers: chr17:g.7126034G>C (hg19) chr17:g.7222715G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222715G>C , CM000679.2:g.7222715G>C GRCh38
NC_000017.10:g.7126034G>C , CM000679.1:g.7126034G>C GRCh37
NC_000017.9:g.7066758G>C NCBI36
NG_007975.1:g.7882G>C
NG_008391.2:g.2336C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.927G>C MANE Select ENSP00000349297.5:p.Glu309Asp
ENST00000322910.9:c.*882G>C ENSP00000325395.5:n.*882G>C
ENST00000350303.9:c.861G>C ENSP00000344152.5:p.Glu287Asp
ENST00000356839.9:c.927G>C ENSP00000349297.5:p.Glu309Asp
ENST00000543245.6:c.996G>C ENSP00000438689.2:p.Glu332Asp
ENST00000578824.5:n.76G>C
ENST00000581378.5:c.645G>C
ENST00000582379.1:n.311G>C
NM_000018.3:c.927G>C NP_000009.1:p.Glu309Asp
NM_001033859.2:c.861G>C NP_001029031.1:p.Glu287Asp
NM_001270447.1:c.996G>C NP_001257376.1:p.Glu332Asp
NM_001270448.1:c.699G>C NP_001257377.1:p.Glu233Asp
XM_006721516.2:c.927G>C XP_006721579.2:p.Glu309Asp
XM_011523829.1:c.927G>C XP_011522131.1:p.Glu309Asp
XM_011523830.1:c.927G>C XP_011522132.1:p.Glu309Asp
XR_934021.1:n.1034G>C
XR_934022.1:n.1034G>C
XR_934023.1:n.1034G>C
XM_006721516.3:c.927G>C XP_006721579.2:p.Glu309Asp
XM_011523829.2:c.927G>C XP_011522131.1:p.Glu309Asp
XM_011523830.2:c.927G>C XP_011522132.1:p.Glu309Asp
XM_024450741.1:c.927G>C XP_024306509.1:p.Glu309Asp
XR_934021.2:n.986G>C
XR_934022.2:n.986G>C
XR_934023.2:n.986G>C
NM_000018.4:c.927G>C MANE Select NP_000009.1:p.Glu309Asp
NM_001033859.3:c.861G>C NP_001029031.1:p.Glu287Asp
NM_001270447.2:c.996G>C NP_001257376.1:p.Glu332Asp
NM_001270448.2:c.699G>C NP_001257377.1:p.Glu233Asp
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