Canonical Allele Identifier: CA2733034570
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2142978349
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222309G>T , CM000679.2:g.7222309G>T GRCh38
NC_000017.10:g.7125628G>T , CM000679.1:g.7125628G>T GRCh37
NC_000017.9:g.7066352G>T NCBI36
NG_007975.1:g.7476G>T
NG_008391.2:g.2742C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.878+7G>T MANE Select ENSP00000349297.5:n.878+7G>T
ENST00000322910.9:c.*833+7G>T ENSP00000325395.5:n.*833+7G>T
ENST00000350303.9:c.812+7G>T ENSP00000344152.5:n.812+7G>T
ENST00000356839.9:c.878+7G>T ENSP00000349297.5:n.878+7G>T
ENST00000543245.6:c.947+7G>T ENSP00000438689.2:n.947+7G>T
ENST00000577191.5:n.1057G>T
ENST00000581378.5:c.596+7G>T
ENST00000582379.1:n.262+7G>T
NM_000018.3:c.878+7G>T NP_000009.1:n.878+7G>T
NM_001033859.2:c.812+7G>T NP_001029031.1:n.812+7G>T
NM_001270447.1:c.947+7G>T NP_001257376.1:n.947+7G>T
NM_001270448.1:c.650+7G>T NP_001257377.1:n.650+7G>T
XM_006721516.2:c.878+7G>T XP_006721579.2:n.878+7G>T
XM_011523829.1:c.878+7G>T XP_011522131.1:n.878+7G>T
XM_011523830.1:c.878+7G>T XP_011522132.1:n.878+7G>T
XR_934021.1:n.985+7G>T
XR_934022.1:n.985+7G>T
XR_934023.1:n.985+7G>T
XM_006721516.3:c.878+7G>T XP_006721579.2:n.878+7G>T
XM_011523829.2:c.878+7G>T XP_011522131.1:n.878+7G>T
XM_011523830.2:c.878+7G>T XP_011522132.1:n.878+7G>T
XM_024450741.1:c.878+7G>T XP_024306509.1:n.878+7G>T
XR_934021.2:n.937+7G>T
XR_934022.2:n.937+7G>T
XR_934023.2:n.937+7G>T
NM_000018.4:c.878+7G>T MANE Select NP_000009.1:n.878+7G>T
NM_001033859.3:c.812+7G>T NP_001029031.1:n.812+7G>T
NM_001270447.2:c.947+7G>T NP_001257376.1:n.947+7G>T
NM_001270448.2:c.650+7G>T NP_001257377.1:n.650+7G>T
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