Canonical Allele Identifier: CA397723622
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932800
ClinVar RCV Id: RCV001200748
dbSNP Id: rs2071263384
MyVariant Identifiers: chr17:g.7125498A>G (hg19) chr17:g.7222179A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222179A>G , CM000679.2:g.7222179A>G GRCh38
NC_000017.10:g.7125498A>G , CM000679.1:g.7125498A>G GRCh37
NC_000017.9:g.7066222A>G NCBI36
NG_007975.1:g.7346A>G
NG_008391.2:g.2872T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.755A>G MANE Select ENSP00000349297.5:p.Asn252Ser
ENST00000322910.9:c.*710A>G ENSP00000325395.5:n.*710A>G
ENST00000350303.9:c.689A>G ENSP00000344152.5:p.Asn230Ser
ENST00000356839.9:c.755A>G ENSP00000349297.5:p.Asn252Ser
ENST00000543245.6:c.824A>G ENSP00000438689.2:p.Asn275Ser
ENST00000577191.5:n.927A>G
ENST00000581378.5:c.473A>G
ENST00000582379.1:n.139A>G
NM_000018.3:c.755A>G NP_000009.1:p.Asn252Ser
NM_001033859.2:c.689A>G NP_001029031.1:p.Asn230Ser
NM_001270447.1:c.824A>G NP_001257376.1:p.Asn275Ser
NM_001270448.1:c.527A>G NP_001257377.1:p.Asn176Ser
XM_006721516.2:c.755A>G XP_006721579.2:p.Asn252Ser
XM_011523829.1:c.755A>G XP_011522131.1:p.Asn252Ser
XM_011523830.1:c.755A>G XP_011522132.1:p.Asn252Ser
XR_934021.1:n.862A>G
XR_934022.1:n.862A>G
XR_934023.1:n.862A>G
XM_006721516.3:c.755A>G XP_006721579.2:p.Asn252Ser
XM_011523829.2:c.755A>G XP_011522131.1:p.Asn252Ser
XM_011523830.2:c.755A>G XP_011522132.1:p.Asn252Ser
XM_024450741.1:c.755A>G XP_024306509.1:p.Asn252Ser
XR_934021.2:n.814A>G
XR_934022.2:n.814A>G
XR_934023.2:n.814A>G
NM_000018.4:c.755A>G MANE Select NP_000009.1:p.Asn252Ser
NM_001033859.3:c.689A>G NP_001029031.1:p.Asn230Ser
NM_001270447.2:c.824A>G NP_001257376.1:p.Asn275Ser
NM_001270448.2:c.527A>G NP_001257377.1:p.Asn176Ser
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