Canonical Allele Identifier: CA8337964

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2707888
• ClinVar RCV Id: RCV003498913
• dbSNP Id: rs112406105
• ExAC: 17:7126471 G / C
• gnomAD v2: 17-7126471-G-C
• gnomAD v4: 17-7223152-G-C
• MyVariant Identifiers: chr17:g.7126471G>C (hg19) ; chr17:g.7223152G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223152G>C , CM000679.2:g.7223152G>C	GRCh38
NC_000017.10:g.7126471G>C , CM000679.1:g.7126471G>C	GRCh37
NC_000017.9:g.7067195G>C	NCBI36
NG_007975.1:g.8319G>C
NG_008391.2:g.1899C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1097G>C MANE Select	ENSP00000349297.5:p.Arg366Pro
ENST00000322910.9:c.*1052G>C	ENSP00000325395.5:n.*1052G>C
ENST00000350303.9:c.1031G>C	ENSP00000344152.5:p.Arg344Pro
ENST00000356839.9:c.1097G>C	ENSP00000349297.5:p.Arg366Pro
ENST00000543245.6:c.1166G>C	ENSP00000438689.2:p.Arg389Pro
ENST00000578579.2:n.46G>C
ENST00000578824.5:n.513G>C
ENST00000579425.5:n.121G>C
ENST00000582379.1:n.748G>C
ENST00000583858.5:c.126G>C
ENST00000585203.6:n.305G>C
NM_000018.3:c.1097G>C	NP_000009.1:p.Arg366Pro
NM_001033859.2:c.1031G>C	NP_001029031.1:p.Arg344Pro
NM_001270447.1:c.1166G>C	NP_001257376.1:p.Arg389Pro
NM_001270448.1:c.869G>C	NP_001257377.1:p.Arg290Pro
XM_006721516.2:c.1097G>C	XP_006721579.2:p.Arg366Pro
XM_011523829.1:c.1097G>C	XP_011522131.1:p.Arg366Pro
XM_011523830.1:c.1097G>C	XP_011522132.1:p.Arg366Pro
XR_934021.1:n.1204G>C
XR_934022.1:n.1204G>C
XR_934023.1:n.1204G>C
XM_006721516.3:c.1097G>C	XP_006721579.2:p.Arg366Pro
XM_011523829.2:c.1097G>C	XP_011522131.1:p.Arg366Pro
XM_011523830.2:c.1097G>C	XP_011522132.1:p.Arg366Pro
XM_024450741.1:c.1097G>C	XP_024306509.1:p.Arg366Pro
XR_934021.2:n.1156G>C
XR_934022.2:n.1156G>C
XR_934023.2:n.1156G>C
NM_000018.4:c.1097G>C MANE Select	NP_000009.1:p.Arg366Pro
NM_001033859.3:c.1031G>C	NP_001029031.1:p.Arg344Pro
NM_001270447.2:c.1166G>C	NP_001257376.1:p.Arg389Pro
NM_001270448.2:c.869G>C	NP_001257377.1:p.Arg290Pro