Canonical Allele Identifier: CA397724030
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs147366714
gnomAD v2: 17-7126054-G-C
gnomAD v4: 17-7222735-G-C
MyVariant Identifiers: chr17:g.7126054G>C (hg19) chr17:g.7222735G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222735G>C , CM000679.2:g.7222735G>C GRCh38
NC_000017.10:g.7126054G>C , CM000679.1:g.7126054G>C GRCh37
NC_000017.9:g.7066778G>C NCBI36
NG_007975.1:g.7902G>C
NG_008391.2:g.2316C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.947G>C MANE Select ENSP00000349297.5:p.Arg316Pro
ENST00000322910.9:c.*902G>C ENSP00000325395.5:n.*902G>C
ENST00000350303.9:c.881G>C ENSP00000344152.5:p.Arg294Pro
ENST00000356839.9:c.947G>C ENSP00000349297.5:p.Arg316Pro
ENST00000543245.6:c.1016G>C ENSP00000438689.2:p.Arg339Pro
ENST00000578824.5:n.96G>C
ENST00000581378.5:c.665G>C
ENST00000582379.1:n.331G>C
NM_000018.3:c.947G>C NP_000009.1:p.Arg316Pro
NM_001033859.2:c.881G>C NP_001029031.1:p.Arg294Pro
NM_001270447.1:c.1016G>C NP_001257376.1:p.Arg339Pro
NM_001270448.1:c.719G>C NP_001257377.1:p.Arg240Pro
XM_006721516.2:c.947G>C XP_006721579.2:p.Arg316Pro
XM_011523829.1:c.947G>C XP_011522131.1:p.Arg316Pro
XM_011523830.1:c.947G>C XP_011522132.1:p.Arg316Pro
XR_934021.1:n.1054G>C
XR_934022.1:n.1054G>C
XR_934023.1:n.1054G>C
XM_006721516.3:c.947G>C XP_006721579.2:p.Arg316Pro
XM_011523829.2:c.947G>C XP_011522131.1:p.Arg316Pro
XM_011523830.2:c.947G>C XP_011522132.1:p.Arg316Pro
XM_024450741.1:c.947G>C XP_024306509.1:p.Arg316Pro
XR_934021.2:n.1006G>C
XR_934022.2:n.1006G>C
XR_934023.2:n.1006G>C
NM_000018.4:c.947G>C MANE Select NP_000009.1:p.Arg316Pro
NM_001033859.3:c.881G>C NP_001029031.1:p.Arg294Pro
NM_001270447.2:c.1016G>C NP_001257376.1:p.Arg339Pro
NM_001270448.2:c.719G>C NP_001257377.1:p.Arg240Pro
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