Canonical Allele Identifier: CA397723773
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2761528
ClinVar RCV Id: RCV003498625
dbSNP Id: rs1208459885
MyVariant Identifiers: chr17:g.7125572G>T (hg19) chr17:g.7222253G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222253G>T , CM000679.2:g.7222253G>T GRCh38
NC_000017.10:g.7125572G>T , CM000679.1:g.7125572G>T GRCh37
NC_000017.9:g.7066296G>T NCBI36
NG_007975.1:g.7420G>T
NG_008391.2:g.2798C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.829G>T MANE Select ENSP00000349297.5:p.Glu277Ter
ENST00000322910.9:c.*784G>T ENSP00000325395.5:n.*784G>T
ENST00000350303.9:c.763G>T ENSP00000344152.5:p.Glu255Ter
ENST00000356839.9:c.829G>T ENSP00000349297.5:p.Glu277Ter
ENST00000543245.6:c.898G>T ENSP00000438689.2:p.Glu300Ter
ENST00000577191.5:n.1001G>T
ENST00000581378.5:c.547G>T
ENST00000582379.1:n.213G>T
NM_000018.3:c.829G>T NP_000009.1:p.Glu277Ter
NM_001033859.2:c.763G>T NP_001029031.1:p.Glu255Ter
NM_001270447.1:c.898G>T NP_001257376.1:p.Glu300Ter
NM_001270448.1:c.601G>T NP_001257377.1:p.Glu201Ter
XM_006721516.2:c.829G>T XP_006721579.2:p.Glu277Ter
XM_011523829.1:c.829G>T XP_011522131.1:p.Glu277Ter
XM_011523830.1:c.829G>T XP_011522132.1:p.Glu277Ter
XR_934021.1:n.936G>T
XR_934022.1:n.936G>T
XR_934023.1:n.936G>T
XM_006721516.3:c.829G>T XP_006721579.2:p.Glu277Ter
XM_011523829.2:c.829G>T XP_011522131.1:p.Glu277Ter
XM_011523830.2:c.829G>T XP_011522132.1:p.Glu277Ter
XM_024450741.1:c.829G>T XP_024306509.1:p.Glu277Ter
XR_934021.2:n.888G>T
XR_934022.2:n.888G>T
XR_934023.2:n.888G>T
NM_000018.4:c.829G>T MANE Select NP_000009.1:p.Glu277Ter
NM_001033859.3:c.763G>T NP_001029031.1:p.Glu255Ter
NM_001270447.2:c.898G>T NP_001257376.1:p.Glu300Ter
NM_001270448.2:c.601G>T NP_001257377.1:p.Glu201Ter
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