Canonical Allele Identifier: CA220189

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 92271
• ClinVar RCV Id: RCV000173951 ; RCV002513812
• dbSNP Id: rs398123080
• MyVariant Identifiers: chr17:g.7126480T>C (hg19) ; chr17:g.7223161T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223161T>C , CM000679.2:g.7223161T>C	GRCh38
NC_000017.10:g.7126480T>C , CM000679.1:g.7126480T>C	GRCh37
NC_000017.9:g.7067204T>C	NCBI36
NG_007975.1:g.8328T>C
NG_008391.2:g.1890A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1106T>C MANE Select	ENSP00000349297.5:p.Phe369Ser
ENST00000322910.9:c.*1061T>C	ENSP00000325395.5:n.*1061T>C
ENST00000350303.9:c.1040T>C	ENSP00000344152.5:p.Phe347Ser
ENST00000356839.9:c.1106T>C	ENSP00000349297.5:p.Phe369Ser
ENST00000543245.6:c.1175T>C	ENSP00000438689.2:p.Phe392Ser
ENST00000578579.2:n.55T>C
ENST00000578824.5:n.522T>C
ENST00000579425.5:n.130T>C
ENST00000582379.1:n.757T>C
ENST00000583858.5:c.135T>C
ENST00000585203.6:n.314T>C
NM_000018.3:c.1106T>C	NP_000009.1:p.Phe369Ser
NM_001033859.2:c.1040T>C	NP_001029031.1:p.Phe347Ser
NM_001270447.1:c.1175T>C	NP_001257376.1:p.Phe392Ser
NM_001270448.1:c.878T>C	NP_001257377.1:p.Phe293Ser
XM_006721516.2:c.1106T>C	XP_006721579.2:p.Phe369Ser
XM_011523829.1:c.1106T>C	XP_011522131.1:p.Phe369Ser
XM_011523830.1:c.1106T>C	XP_011522132.1:p.Phe369Ser
XR_934021.1:n.1213T>C
XR_934022.1:n.1213T>C
XR_934023.1:n.1213T>C
XM_006721516.3:c.1106T>C	XP_006721579.2:p.Phe369Ser
XM_011523829.2:c.1106T>C	XP_011522131.1:p.Phe369Ser
XM_011523830.2:c.1106T>C	XP_011522132.1:p.Phe369Ser
XM_024450741.1:c.1106T>C	XP_024306509.1:p.Phe369Ser
XR_934021.2:n.1165T>C
XR_934022.2:n.1165T>C
XR_934023.2:n.1165T>C
NM_000018.4:c.1106T>C MANE Select	NP_000009.1:p.Phe369Ser
NM_001033859.3:c.1040T>C	NP_001029031.1:p.Phe347Ser
NM_001270447.2:c.1175T>C	NP_001257376.1:p.Phe392Ser
NM_001270448.2:c.878T>C	NP_001257377.1:p.Phe293Ser