Canonical Allele Identifier: CA220207

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 92283
• ClinVar RCV Id: RCV000077916 ; RCV000984921
• dbSNP Id: rs398123088
• MyVariant Identifiers: chr17:g.7124325T>C (hg19) ; chr17:g.7221006T>C (hg38)
• ERepo: CA220207/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221006T>C , CM000679.2:g.7221006T>C	GRCh38
NC_000017.10:g.7124325T>C , CM000679.1:g.7124325T>C	GRCh37
NC_000017.9:g.7065049T>C	NCBI36
NG_007975.1:g.6173T>C
NG_008391.2:g.4045A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.425T>C MANE Select	ENSP00000349297.5:p.Phe142Ser
ENST00000322910.9:c.*380T>C	ENSP00000325395.5:n.*380T>C
ENST00000350303.9:c.359T>C	ENSP00000344152.5:p.Phe120Ser
ENST00000356839.9:c.425T>C	ENSP00000349297.5:p.Phe142Ser
ENST00000543245.6:c.494T>C	ENSP00000438689.2:p.Phe165Ser
ENST00000577191.5:n.502T>C
ENST00000577433.5:n.633T>C
ENST00000577857.5:n.293+176T>C
ENST00000579286.5:n.606T>C
ENST00000579886.2:c.263T>C	ENSP00000463246.1:p.Phe88Ser
ENST00000580365.1:n.156T>C
ENST00000581378.5:c.124T>C
ENST00000581562.5:n.472T>C
ENST00000582056.5:n.608T>C
ENST00000582166.1:n.406T>C
ENST00000583312.5:c.425T>C	ENSP00000467920.1:p.Phe142Ser
ENST00000584103.5:c.458T>C	ENSP00000465353.1:p.Phe153Ser
NM_000018.3:c.425T>C	NP_000009.1:p.Phe142Ser
NM_001033859.2:c.359T>C	NP_001029031.1:p.Phe120Ser
NM_001270447.1:c.494T>C	NP_001257376.1:p.Phe165Ser
NM_001270448.1:c.197T>C	NP_001257377.1:p.Phe66Ser
XM_006721516.2:c.425T>C	XP_006721579.2:p.Phe142Ser
XM_011523829.1:c.425T>C	XP_011522131.1:p.Phe142Ser
XM_011523830.1:c.425T>C	XP_011522132.1:p.Phe142Ser
XR_934021.1:n.532T>C
XR_934022.1:n.532T>C
XR_934023.1:n.532T>C
XM_006721516.3:c.425T>C	XP_006721579.2:p.Phe142Ser
XM_011523829.2:c.425T>C	XP_011522131.1:p.Phe142Ser
XM_011523830.2:c.425T>C	XP_011522132.1:p.Phe142Ser
XM_024450741.1:c.425T>C	XP_024306509.1:p.Phe142Ser
XR_934021.2:n.484T>C
XR_934022.2:n.484T>C
XR_934023.2:n.484T>C
NM_000018.4:c.425T>C MANE Select	NP_000009.1:p.Phe142Ser
NM_001033859.3:c.359T>C	NP_001029031.1:p.Phe120Ser
NM_001270447.2:c.494T>C	NP_001257376.1:p.Phe165Ser
NM_001270448.2:c.197T>C	NP_001257377.1:p.Phe66Ser