Canonical Allele Identifier: CA397723858
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1377299567
gnomAD v4: 17-7222295-A-G
MyVariant Identifiers: chr17:g.7125614A>G (hg19) chr17:g.7222295A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222295A>G , CM000679.2:g.7222295A>G GRCh38
NC_000017.10:g.7125614A>G , CM000679.1:g.7125614A>G GRCh37
NC_000017.9:g.7066338A>G NCBI36
NG_007975.1:g.7462A>G
NG_008391.2:g.2756T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.871A>G MANE Select ENSP00000349297.5:p.Ile291Val
ENST00000322910.9:c.*826A>G ENSP00000325395.5:n.*826A>G
ENST00000350303.9:c.805A>G ENSP00000344152.5:p.Ile269Val
ENST00000356839.9:c.871A>G ENSP00000349297.5:p.Ile291Val
ENST00000543245.6:c.940A>G ENSP00000438689.2:p.Ile314Val
ENST00000577191.5:n.1043A>G
ENST00000581378.5:c.589A>G
ENST00000582379.1:n.255A>G
NM_000018.3:c.871A>G NP_000009.1:p.Ile291Val
NM_001033859.2:c.805A>G NP_001029031.1:p.Ile269Val
NM_001270447.1:c.940A>G NP_001257376.1:p.Ile314Val
NM_001270448.1:c.643A>G NP_001257377.1:p.Ile215Val
XM_006721516.2:c.871A>G XP_006721579.2:p.Ile291Val
XM_011523829.1:c.871A>G XP_011522131.1:p.Ile291Val
XM_011523830.1:c.871A>G XP_011522132.1:p.Ile291Val
XR_934021.1:n.978A>G
XR_934022.1:n.978A>G
XR_934023.1:n.978A>G
XM_006721516.3:c.871A>G XP_006721579.2:p.Ile291Val
XM_011523829.2:c.871A>G XP_011522131.1:p.Ile291Val
XM_011523830.2:c.871A>G XP_011522132.1:p.Ile291Val
XM_024450741.1:c.871A>G XP_024306509.1:p.Ile291Val
XR_934021.2:n.930A>G
XR_934022.2:n.930A>G
XR_934023.2:n.930A>G
NM_000018.4:c.871A>G MANE Select NP_000009.1:p.Ile291Val
NM_001033859.3:c.805A>G NP_001029031.1:p.Ile269Val
NM_001270447.2:c.940A>G NP_001257376.1:p.Ile314Val
NM_001270448.2:c.643A>G NP_001257377.1:p.Ile215Val
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