Canonical Allele Identifier: CA497693783
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7221633-C-G
MyVariant Identifiers: chr17:g.7124952C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221633C>G , CM000679.2:g.7221633C>G GRCh38
NC_000017.10:g.7124952C>G , CM000679.1:g.7124952C>G GRCh37
NC_000017.9:g.7065676C>G NCBI36
NG_007975.1:g.6800C>G
NG_008391.2:g.3418G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.573C>G MANE Select ENSP00000349297.5:p.Leu191=
ENST00000322910.9:c.*528C>G ENSP00000325395.5:n.*528C>G
ENST00000350303.9:c.507C>G ENSP00000344152.5:p.Leu169=
ENST00000356839.9:c.573C>G ENSP00000349297.5:p.Leu191=
ENST00000543245.6:c.642C>G ENSP00000438689.2:p.Leu214=
ENST00000577191.5:n.650C>G
ENST00000577433.5:n.781C>G
ENST00000577857.5:n.389C>G
ENST00000579286.5:n.754C>G
ENST00000579886.2:c.411C>G ENSP00000463246.1:p.Leu137=
ENST00000580365.1:n.304C>G
ENST00000581378.5:c.291C>G
ENST00000581562.5:n.525-319C>G
ENST00000583312.5:c.573C>G ENSP00000467920.1:p.Leu191=
ENST00000583760.1:n.355C>G
NM_000018.3:c.573C>G NP_000009.1:p.Leu191=
NM_001033859.2:c.507C>G NP_001029031.1:p.Leu169=
NM_001270447.1:c.642C>G NP_001257376.1:p.Leu214=
NM_001270448.1:c.345C>G NP_001257377.1:p.Leu115=
XM_006721516.2:c.573C>G XP_006721579.2:p.Leu191=
XM_011523829.1:c.573C>G XP_011522131.1:p.Leu191=
XM_011523830.1:c.573C>G XP_011522132.1:p.Leu191=
XR_934021.1:n.680C>G
XR_934022.1:n.680C>G
XR_934023.1:n.680C>G
XM_006721516.3:c.573C>G XP_006721579.2:p.Leu191=
XM_011523829.2:c.573C>G XP_011522131.1:p.Leu191=
XM_011523830.2:c.573C>G XP_011522132.1:p.Leu191=
XM_024450741.1:c.573C>G XP_024306509.1:p.Leu191=
XR_934021.2:n.632C>G
XR_934022.2:n.632C>G
XR_934023.2:n.632C>G
NM_000018.4:c.573C>G MANE Select NP_000009.1:p.Leu191=
NM_001033859.3:c.507C>G NP_001029031.1:p.Leu169=
NM_001270447.2:c.642C>G NP_001257376.1:p.Leu214=
NM_001270448.2:c.345C>G NP_001257377.1:p.Leu115=
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