Canonical Allele Identifier: CA397724116

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7126098A>G (hg19) ; chr17:g.7222779A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222779A>G , CM000679.2:g.7222779A>G	GRCh38
NC_000017.10:g.7126098A>G , CM000679.1:g.7126098A>G	GRCh37
NC_000017.9:g.7066822A>G	NCBI36
NG_007975.1:g.7946A>G
NG_008391.2:g.2272T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.991A>G MANE Select	ENSP00000349297.5:p.Lys331Glu
ENST00000322910.9:c.*946A>G	ENSP00000325395.5:n.*946A>G
ENST00000350303.9:c.925A>G	ENSP00000344152.5:p.Lys309Glu
ENST00000356839.9:c.991A>G	ENSP00000349297.5:p.Lys331Glu
ENST00000543245.6:c.1060A>G	ENSP00000438689.2:p.Lys354Glu
ENST00000578824.5:n.140A>G
ENST00000581378.5:c.709A>G
ENST00000582379.1:n.375A>G
ENST00000583858.5:c.20A>G
NM_000018.3:c.991A>G	NP_000009.1:p.Lys331Glu
NM_001033859.2:c.925A>G	NP_001029031.1:p.Lys309Glu
NM_001270447.1:c.1060A>G	NP_001257376.1:p.Lys354Glu
NM_001270448.1:c.763A>G	NP_001257377.1:p.Lys255Glu
XM_006721516.2:c.991A>G	XP_006721579.2:p.Lys331Glu
XM_011523829.1:c.991A>G	XP_011522131.1:p.Lys331Glu
XM_011523830.1:c.991A>G	XP_011522132.1:p.Lys331Glu
XR_934021.1:n.1098A>G
XR_934022.1:n.1098A>G
XR_934023.1:n.1098A>G
XM_006721516.3:c.991A>G	XP_006721579.2:p.Lys331Glu
XM_011523829.2:c.991A>G	XP_011522131.1:p.Lys331Glu
XM_011523830.2:c.991A>G	XP_011522132.1:p.Lys331Glu
XM_024450741.1:c.991A>G	XP_024306509.1:p.Lys331Glu
XR_934021.2:n.1050A>G
XR_934022.2:n.1050A>G
XR_934023.2:n.1050A>G
NM_000018.4:c.991A>G MANE Select	NP_000009.1:p.Lys331Glu
NM_001033859.3:c.925A>G	NP_001029031.1:p.Lys309Glu
NM_001270447.2:c.1060A>G	NP_001257376.1:p.Lys354Glu
NM_001270448.2:c.763A>G	NP_001257377.1:p.Lys255Glu