Canonical Allele Identifier: CA497620905

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2036877
• ClinVar RCV Id: RCV002899475
• dbSNP Id: rs745832866
• gnomAD v4: 17-7223208-C-A
• MyVariant Identifiers: chr17:g.7126527C>A (hg19) ; chr17:g.7223208C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223208C>A , CM000679.2:g.7223208C>A	GRCh38
NC_000017.10:g.7126527C>A , CM000679.1:g.7126527C>A	GRCh37
NC_000017.9:g.7067251C>A	NCBI36
NG_007975.1:g.8375C>A
NG_008391.2:g.1843G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1153C>A MANE Select	ENSP00000349297.5:p.Arg385=
ENST00000322910.9:c.*1108C>A	ENSP00000325395.5:n.*1108C>A
ENST00000350303.9:c.1087C>A	ENSP00000344152.5:p.Arg363=
ENST00000356839.9:c.1153C>A	ENSP00000349297.5:p.Arg385=
ENST00000542255.6:c.11C>A
ENST00000543245.6:c.1222C>A	ENSP00000438689.2:p.Arg408=
ENST00000578579.2:n.102C>A
ENST00000578824.5:n.569C>A
ENST00000579425.5:n.177C>A
ENST00000582379.1:n.804C>A
ENST00000583858.5:c.182C>A
ENST00000585203.6:n.361C>A
NM_000018.3:c.1153C>A	NP_000009.1:p.Arg385=
NM_001033859.2:c.1087C>A	NP_001029031.1:p.Arg363=
NM_001270447.1:c.1222C>A	NP_001257376.1:p.Arg408=
NM_001270448.1:c.925C>A	NP_001257377.1:p.Arg309=
XM_006721516.2:c.1153C>A	XP_006721579.2:p.Arg385=
XM_011523829.1:c.1153C>A	XP_011522131.1:p.Arg385=
XM_011523830.1:c.1153C>A	XP_011522132.1:p.Arg385=
XR_934021.1:n.1260C>A
XR_934022.1:n.1260C>A
XR_934023.1:n.1260C>A
XM_006721516.3:c.1153C>A	XP_006721579.2:p.Arg385=
XM_011523829.2:c.1153C>A	XP_011522131.1:p.Arg385=
XM_011523830.2:c.1153C>A	XP_011522132.1:p.Arg385=
XM_024450741.1:c.1153C>A	XP_024306509.1:p.Arg385=
XR_934021.2:n.1212C>A
XR_934022.2:n.1212C>A
XR_934023.2:n.1212C>A
NM_000018.4:c.1153C>A MANE Select	NP_000009.1:p.Arg385=
NM_001033859.3:c.1087C>A	NP_001029031.1:p.Arg363=
NM_001270447.2:c.1222C>A	NP_001257376.1:p.Arg408=
NM_001270448.2:c.925C>A	NP_001257377.1:p.Arg309=