Canonical Allele Identifier: CA497694018
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222013-C-T
MyVariant Identifiers: chr17:g.7125332C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222013C>T , CM000679.2:g.7222013C>T GRCh38
NC_000017.10:g.7125332C>T , CM000679.1:g.7125332C>T GRCh37
NC_000017.9:g.7066056C>T NCBI36
NG_007975.1:g.7180C>T
NG_008391.2:g.3038G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.684C>T MANE Select ENSP00000349297.5:p.Ile228=
ENST00000322910.9:c.*639C>T ENSP00000325395.5:n.*639C>T
ENST00000350303.9:c.618C>T ENSP00000344152.5:p.Ile206=
ENST00000356839.9:c.684C>T ENSP00000349297.5:p.Ile228=
ENST00000543245.6:c.753C>T ENSP00000438689.2:p.Ile251=
ENST00000577191.5:n.761C>T
ENST00000577857.5:n.500C>T
ENST00000579286.5:n.865C>T
ENST00000580365.1:n.415C>T
ENST00000581378.5:c.402C>T
ENST00000582379.1:n.68C>T
ENST00000583760.1:n.466C>T
NM_000018.3:c.684C>T NP_000009.1:p.Ile228=
NM_001033859.2:c.618C>T NP_001029031.1:p.Ile206=
NM_001270447.1:c.753C>T NP_001257376.1:p.Ile251=
NM_001270448.1:c.456C>T NP_001257377.1:p.Ile152=
XM_006721516.2:c.684C>T XP_006721579.2:p.Ile228=
XM_011523829.1:c.684C>T XP_011522131.1:p.Ile228=
XM_011523830.1:c.684C>T XP_011522132.1:p.Ile228=
XR_934021.1:n.791C>T
XR_934022.1:n.791C>T
XR_934023.1:n.791C>T
XM_006721516.3:c.684C>T XP_006721579.2:p.Ile228=
XM_011523829.2:c.684C>T XP_011522131.1:p.Ile228=
XM_011523830.2:c.684C>T XP_011522132.1:p.Ile228=
XM_024450741.1:c.684C>T XP_024306509.1:p.Ile228=
XR_934021.2:n.743C>T
XR_934022.2:n.743C>T
XR_934023.2:n.743C>T
NM_000018.4:c.684C>T MANE Select NP_000009.1:p.Ile228=
NM_001033859.3:c.618C>T NP_001029031.1:p.Ile206=
NM_001270447.2:c.753C>T NP_001257376.1:p.Ile251=
NM_001270448.2:c.456C>T NP_001257377.1:p.Ile152=
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