Canonical Allele Identifier: CA397723647
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1292515364
MyVariant Identifiers: chr17:g.7125510C>T (hg19) chr17:g.7222191C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222191C>T , CM000679.2:g.7222191C>T GRCh38
NC_000017.10:g.7125510C>T , CM000679.1:g.7125510C>T GRCh37
NC_000017.9:g.7066234C>T NCBI36
NG_007975.1:g.7358C>T
NG_008391.2:g.2860G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.767C>T MANE Select ENSP00000349297.5:p.Ala256Val
ENST00000322910.9:c.*722C>T ENSP00000325395.5:n.*722C>T
ENST00000350303.9:c.701C>T ENSP00000344152.5:p.Ala234Val
ENST00000356839.9:c.767C>T ENSP00000349297.5:p.Ala256Val
ENST00000543245.6:c.836C>T ENSP00000438689.2:p.Ala279Val
ENST00000577191.5:n.939C>T
ENST00000581378.5:c.485C>T
ENST00000582379.1:n.151C>T
NM_000018.3:c.767C>T NP_000009.1:p.Ala256Val
NM_001033859.2:c.701C>T NP_001029031.1:p.Ala234Val
NM_001270447.1:c.836C>T NP_001257376.1:p.Ala279Val
NM_001270448.1:c.539C>T NP_001257377.1:p.Ala180Val
XM_006721516.2:c.767C>T XP_006721579.2:p.Ala256Val
XM_011523829.1:c.767C>T XP_011522131.1:p.Ala256Val
XM_011523830.1:c.767C>T XP_011522132.1:p.Ala256Val
XR_934021.1:n.874C>T
XR_934022.1:n.874C>T
XR_934023.1:n.874C>T
XM_006721516.3:c.767C>T XP_006721579.2:p.Ala256Val
XM_011523829.2:c.767C>T XP_011522131.1:p.Ala256Val
XM_011523830.2:c.767C>T XP_011522132.1:p.Ala256Val
XM_024450741.1:c.767C>T XP_024306509.1:p.Ala256Val
XR_934021.2:n.826C>T
XR_934022.2:n.826C>T
XR_934023.2:n.826C>T
NM_000018.4:c.767C>T MANE Select NP_000009.1:p.Ala256Val
NM_001033859.3:c.701C>T NP_001029031.1:p.Ala234Val
NM_001270447.2:c.836C>T NP_001257376.1:p.Ala279Val
NM_001270448.2:c.539C>T NP_001257377.1:p.Ala180Val
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