Canonical Allele Identifier: CA397724874

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127188C>G (hg19) ; chr17:g.7223869C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223869C>G , CM000679.2:g.7223869C>G	GRCh38
NC_000017.10:g.7127188C>G , CM000679.1:g.7127188C>G	GRCh37
NC_000017.9:g.7067912C>G	NCBI36
NG_007975.1:g.9036C>G
NG_008391.2:g.1182G>C
NG_033038.1:g.15676G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1326C>G MANE Select	ENSP00000349297.5:p.Phe442Leu
ENST00000322910.9:c.*1281C>G	ENSP00000325395.5:n.*1281C>G
ENST00000350303.9:c.1260C>G	ENSP00000344152.5:p.Phe420Leu
ENST00000356839.9:c.1326C>G	ENSP00000349297.5:p.Phe442Leu
ENST00000542255.6:c.184C>G
ENST00000543245.6:c.1395C>G	ENSP00000438689.2:p.Phe465Leu
ENST00000578711.1:n.365C>G
ENST00000579425.5:n.350C>G
ENST00000579546.1:c.163C>G
ENST00000583074.5:n.45C>G
ENST00000583850.5:n.101C>G
ENST00000583858.5:c.355C>G
ENST00000585203.6:n.523+11C>G
NM_000018.3:c.1326C>G	NP_000009.1:p.Phe442Leu
NM_001033859.2:c.1260C>G	NP_001029031.1:p.Phe420Leu
NM_001270447.1:c.1395C>G	NP_001257376.1:p.Phe465Leu
NM_001270448.1:c.1098C>G	NP_001257377.1:p.Phe366Leu
XM_006721516.2:c.1326C>G	XP_006721579.2:p.Phe442Leu
XM_011523829.1:c.1326C>G	XP_011522131.1:p.Phe442Leu
XM_011523830.1:c.1326C>G	XP_011522132.1:p.Phe442Leu
XR_934021.1:n.1433C>G
XR_934022.1:n.1433C>G
XR_934023.1:n.1433C>G
XM_006721516.3:c.1326C>G	XP_006721579.2:p.Phe442Leu
XM_011523829.2:c.1326C>G	XP_011522131.1:p.Phe442Leu
XM_011523830.2:c.1326C>G	XP_011522132.1:p.Phe442Leu
XM_024450741.1:c.1326C>G	XP_024306509.1:p.Phe442Leu
XR_934021.2:n.1385C>G
XR_934022.2:n.1385C>G
XR_934023.2:n.1385C>G
NM_000018.4:c.1326C>G MANE Select	NP_000009.1:p.Phe442Leu
NM_001033859.3:c.1260C>G	NP_001029031.1:p.Phe420Leu
NM_001270447.2:c.1395C>G	NP_001257376.1:p.Phe465Leu
NM_001270448.2:c.1098C>G	NP_001257377.1:p.Phe366Leu