Canonical Allele Identifier: CA497620213
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126061A>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222742A>T , CM000679.2:g.7222742A>T GRCh38
NC_000017.10:g.7126061A>T , CM000679.1:g.7126061A>T GRCh37
NC_000017.9:g.7066785A>T NCBI36
NG_007975.1:g.7909A>T
NG_008391.2:g.2309T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.954A>T MANE Select ENSP00000349297.5:p.Pro318=
ENST00000322910.9:c.*909A>T ENSP00000325395.5:n.*909A>T
ENST00000350303.9:c.888A>T ENSP00000344152.5:p.Pro296=
ENST00000356839.9:c.954A>T ENSP00000349297.5:p.Pro318=
ENST00000543245.6:c.1023A>T ENSP00000438689.2:p.Pro341=
ENST00000578824.5:n.103A>T
ENST00000581378.5:c.672A>T
ENST00000582379.1:n.338A>T
NM_000018.3:c.954A>T NP_000009.1:p.Pro318=
NM_001033859.2:c.888A>T NP_001029031.1:p.Pro296=
NM_001270447.1:c.1023A>T NP_001257376.1:p.Pro341=
NM_001270448.1:c.726A>T NP_001257377.1:p.Pro242=
XM_006721516.2:c.954A>T XP_006721579.2:p.Pro318=
XM_011523829.1:c.954A>T XP_011522131.1:p.Pro318=
XM_011523830.1:c.954A>T XP_011522132.1:p.Pro318=
XR_934021.1:n.1061A>T
XR_934022.1:n.1061A>T
XR_934023.1:n.1061A>T
XM_006721516.3:c.954A>T XP_006721579.2:p.Pro318=
XM_011523829.2:c.954A>T XP_011522131.1:p.Pro318=
XM_011523830.2:c.954A>T XP_011522132.1:p.Pro318=
XM_024450741.1:c.954A>T XP_024306509.1:p.Pro318=
XR_934021.2:n.1013A>T
XR_934022.2:n.1013A>T
XR_934023.2:n.1013A>T
NM_000018.4:c.954A>T MANE Select NP_000009.1:p.Pro318=
NM_001033859.3:c.888A>T NP_001029031.1:p.Pro296=
NM_001270447.2:c.1023A>T NP_001257376.1:p.Pro341=
NM_001270448.2:c.726A>T NP_001257377.1:p.Pro242=
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