Canonical Allele Identifier: CA397724948

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932767
• ClinVar RCV Id: RCV001200708
• dbSNP Id: rs138058572
• MyVariant Identifiers: chr17:g.7127312G>C (hg19) ; chr17:g.7223993G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223993G>C , CM000679.2:g.7223993G>C	GRCh38
NC_000017.10:g.7127312G>C , CM000679.1:g.7127312G>C	GRCh37
NC_000017.9:g.7068036G>C	NCBI36
NG_007975.1:g.9160G>C
NG_008391.2:g.1058C>G
NG_033038.1:g.15552C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1358G>C MANE Select	ENSP00000349297.5:p.Arg453Pro
ENST00000322910.9:c.*1313G>C	ENSP00000325395.5:n.*1313G>C
ENST00000350303.9:c.1292G>C	ENSP00000344152.5:p.Arg431Pro
ENST00000356839.9:c.1358G>C	ENSP00000349297.5:p.Arg453Pro
ENST00000542255.6:c.216G>C
ENST00000543245.6:c.1427G>C	ENSP00000438689.2:p.Arg476Pro
ENST00000578711.1:n.489G>C
ENST00000579425.5:n.474G>C
ENST00000579546.1:c.195G>C
ENST00000579894.5:n.69G>C
ENST00000583074.5:n.77G>C
ENST00000583850.5:n.133G>C
ENST00000583858.5:c.387G>C
ENST00000585203.6:n.549G>C
NM_000018.3:c.1358G>C	NP_000009.1:p.Arg453Pro
NM_001033859.2:c.1292G>C	NP_001029031.1:p.Arg431Pro
NM_001270447.1:c.1427G>C	NP_001257376.1:p.Arg476Pro
NM_001270448.1:c.1130G>C	NP_001257377.1:p.Arg377Pro
XM_006721516.2:c.1358G>C	XP_006721579.2:p.Arg453Pro
XM_011523829.1:c.1358G>C	XP_011522131.1:p.Arg453Pro
XM_011523830.1:c.1358G>C	XP_011522132.1:p.Arg453Pro
XR_934021.1:n.1465G>C
XR_934022.1:n.1465G>C
XR_934023.1:n.1465G>C
XM_006721516.3:c.1358G>C	XP_006721579.2:p.Arg453Pro
XM_011523829.2:c.1358G>C	XP_011522131.1:p.Arg453Pro
XM_011523830.2:c.1358G>C	XP_011522132.1:p.Arg453Pro
XM_024450741.1:c.1358G>C	XP_024306509.1:p.Arg453Pro
XR_934021.2:n.1417G>C
XR_934022.2:n.1417G>C
XR_934023.2:n.1417G>C
NM_000018.4:c.1358G>C MANE Select	NP_000009.1:p.Arg453Pro
NM_001033859.3:c.1292G>C	NP_001029031.1:p.Arg431Pro
NM_001270447.2:c.1427G>C	NP_001257376.1:p.Arg476Pro
NM_001270448.2:c.1130G>C	NP_001257377.1:p.Arg377Pro