Canonical Allele Identifier: CA497619852
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125526C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222207C>G , CM000679.2:g.7222207C>G GRCh38
NC_000017.10:g.7125526C>G , CM000679.1:g.7125526C>G GRCh37
NC_000017.9:g.7066250C>G NCBI36
NG_007975.1:g.7374C>G
NG_008391.2:g.2844G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.783C>G MANE Select ENSP00000349297.5:p.Val261=
ENST00000322910.9:c.*738C>G ENSP00000325395.5:n.*738C>G
ENST00000350303.9:c.717C>G ENSP00000344152.5:p.Val239=
ENST00000356839.9:c.783C>G ENSP00000349297.5:p.Val261=
ENST00000543245.6:c.852C>G ENSP00000438689.2:p.Val284=
ENST00000577191.5:n.955C>G
ENST00000581378.5:c.501C>G
ENST00000582379.1:n.167C>G
NM_000018.3:c.783C>G NP_000009.1:p.Val261=
NM_001033859.2:c.717C>G NP_001029031.1:p.Val239=
NM_001270447.1:c.852C>G NP_001257376.1:p.Val284=
NM_001270448.1:c.555C>G NP_001257377.1:p.Val185=
XM_006721516.2:c.783C>G XP_006721579.2:p.Val261=
XM_011523829.1:c.783C>G XP_011522131.1:p.Val261=
XM_011523830.1:c.783C>G XP_011522132.1:p.Val261=
XR_934021.1:n.890C>G
XR_934022.1:n.890C>G
XR_934023.1:n.890C>G
XM_006721516.3:c.783C>G XP_006721579.2:p.Val261=
XM_011523829.2:c.783C>G XP_011522131.1:p.Val261=
XM_011523830.2:c.783C>G XP_011522132.1:p.Val261=
XM_024450741.1:c.783C>G XP_024306509.1:p.Val261=
XR_934021.2:n.842C>G
XR_934022.2:n.842C>G
XR_934023.2:n.842C>G
NM_000018.4:c.783C>G MANE Select NP_000009.1:p.Val261=
NM_001033859.3:c.717C>G NP_001029031.1:p.Val239=
NM_001270447.2:c.852C>G NP_001257376.1:p.Val284=
NM_001270448.2:c.555C>G NP_001257377.1:p.Val185=
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