Canonical Allele Identifier: CA397724698

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932763
• ClinVar RCV Id: RCV001200703
• dbSNP Id: rs2071340371
• MyVariant Identifiers: chr17:g.7127034C>G (hg19) ; chr17:g.7223715C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223715C>G , CM000679.2:g.7223715C>G	GRCh38
NC_000017.10:g.7127034C>G , CM000679.1:g.7127034C>G	GRCh37
NC_000017.9:g.7067758C>G	NCBI36
NG_007975.1:g.8882C>G
NG_008391.2:g.1336G>C
NG_033038.1:g.15830G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1254C>G MANE Select	ENSP00000349297.5:p.Ser418Arg
ENST00000322910.9:c.*1209C>G	ENSP00000325395.5:n.*1209C>G
ENST00000350303.9:c.1188C>G	ENSP00000344152.5:p.Ser396Arg
ENST00000356839.9:c.1254C>G	ENSP00000349297.5:p.Ser418Arg
ENST00000542255.6:c.112C>G
ENST00000543245.6:c.1323C>G	ENSP00000438689.2:p.Ser441Arg
ENST00000578579.2:n.425C>G
ENST00000578711.1:n.211C>G
ENST00000578824.5:n.670C>G
ENST00000579425.5:n.278C>G
ENST00000579546.1:c.91C>G
ENST00000583850.5:n.29C>G
ENST00000583858.5:c.283C>G
ENST00000585203.6:n.462C>G
NM_000018.3:c.1254C>G	NP_000009.1:p.Ser418Arg
NM_001033859.2:c.1188C>G	NP_001029031.1:p.Ser396Arg
NM_001270447.1:c.1323C>G	NP_001257376.1:p.Ser441Arg
NM_001270448.1:c.1026C>G	NP_001257377.1:p.Ser342Arg
XM_006721516.2:c.1254C>G	XP_006721579.2:p.Ser418Arg
XM_011523829.1:c.1254C>G	XP_011522131.1:p.Ser418Arg
XM_011523830.1:c.1254C>G	XP_011522132.1:p.Ser418Arg
XR_934021.1:n.1361C>G
XR_934022.1:n.1361C>G
XR_934023.1:n.1361C>G
XM_006721516.3:c.1254C>G	XP_006721579.2:p.Ser418Arg
XM_011523829.2:c.1254C>G	XP_011522131.1:p.Ser418Arg
XM_011523830.2:c.1254C>G	XP_011522132.1:p.Ser418Arg
XM_024450741.1:c.1254C>G	XP_024306509.1:p.Ser418Arg
XR_934021.2:n.1313C>G
XR_934022.2:n.1313C>G
XR_934023.2:n.1313C>G
NM_000018.4:c.1254C>G MANE Select	NP_000009.1:p.Ser418Arg
NM_001033859.3:c.1188C>G	NP_001029031.1:p.Ser396Arg
NM_001270447.2:c.1323C>G	NP_001257376.1:p.Ser441Arg
NM_001270448.2:c.1026C>G	NP_001257377.1:p.Ser342Arg