Canonical Allele Identifier: CA2808365996

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222163C>G , CM000679.2:g.7222163C>G	GRCh38
NC_000017.10:g.7125482C>G , CM000679.1:g.7125482C>G	GRCh37
NC_000017.9:g.7066206C>G	NCBI36
NG_007975.1:g.7330C>G
NG_008391.2:g.2888G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.753-14C>G MANE Select	ENSP00000349297.5:n.753-14C>G
ENST00000322910.9:c.*708-14C>G	ENSP00000325395.5:n.*708-14C>G
ENST00000350303.9:c.687-14C>G	ENSP00000344152.5:n.687-14C>G
ENST00000356839.9:c.753-14C>G	ENSP00000349297.5:n.753-14C>G
ENST00000543245.6:c.822-14C>G	ENSP00000438689.2:n.822-14C>G
ENST00000577191.5:n.911C>G
ENST00000581378.5:c.471-14C>G
ENST00000582379.1:n.137-14C>G
NM_000018.3:c.753-14C>G	NP_000009.1:n.753-14C>G
NM_001033859.2:c.687-14C>G	NP_001029031.1:n.687-14C>G
NM_001270447.1:c.822-14C>G	NP_001257376.1:n.822-14C>G
NM_001270448.1:c.525-14C>G	NP_001257377.1:n.525-14C>G
XM_006721516.2:c.753-14C>G	XP_006721579.2:n.753-14C>G
XM_011523829.1:c.753-14C>G	XP_011522131.1:n.753-14C>G
XM_011523830.1:c.753-14C>G	XP_011522132.1:n.753-14C>G
XR_934021.1:n.860-14C>G
XR_934022.1:n.860-14C>G
XR_934023.1:n.860-14C>G
XM_006721516.3:c.753-14C>G	XP_006721579.2:n.753-14C>G
XM_011523829.2:c.753-14C>G	XP_011522131.1:n.753-14C>G
XM_011523830.2:c.753-14C>G	XP_011522132.1:n.753-14C>G
XM_024450741.1:c.753-14C>G	XP_024306509.1:n.753-14C>G
XR_934021.2:n.812-14C>G
XR_934022.2:n.812-14C>G
XR_934023.2:n.812-14C>G
NM_000018.4:c.753-14C>G MANE Select	NP_000009.1:n.753-14C>G
NM_001033859.3:c.687-14C>G	NP_001029031.1:n.687-14C>G
NM_001270447.2:c.822-14C>G	NP_001257376.1:n.822-14C>G
NM_001270448.2:c.525-14C>G	NP_001257377.1:n.525-14C>G