Canonical Allele Identifier: CA397723917

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7126000A>G (hg19) ; chr17:g.7222681A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222681A>G , CM000679.2:g.7222681A>G	GRCh38
NC_000017.10:g.7126000A>G , CM000679.1:g.7126000A>G	GRCh37
NC_000017.9:g.7066724A>G	NCBI36
NG_007975.1:g.7848A>G
NG_008391.2:g.2370T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.893A>G MANE Select	ENSP00000349297.5:p.Lys298Arg
ENST00000322910.9:c.*848A>G	ENSP00000325395.5:n.*848A>G
ENST00000350303.9:c.827A>G	ENSP00000344152.5:p.Lys276Arg
ENST00000356839.9:c.893A>G	ENSP00000349297.5:p.Lys298Arg
ENST00000543245.6:c.962A>G	ENSP00000438689.2:p.Lys321Arg
ENST00000578824.5:n.42A>G
ENST00000581378.5:c.611A>G
ENST00000582379.1:n.277A>G
NM_000018.3:c.893A>G	NP_000009.1:p.Lys298Arg
NM_001033859.2:c.827A>G	NP_001029031.1:p.Lys276Arg
NM_001270447.1:c.962A>G	NP_001257376.1:p.Lys321Arg
NM_001270448.1:c.665A>G	NP_001257377.1:p.Lys222Arg
XM_006721516.2:c.893A>G	XP_006721579.2:p.Lys298Arg
XM_011523829.1:c.893A>G	XP_011522131.1:p.Lys298Arg
XM_011523830.1:c.893A>G	XP_011522132.1:p.Lys298Arg
XR_934021.1:n.1000A>G
XR_934022.1:n.1000A>G
XR_934023.1:n.1000A>G
XM_006721516.3:c.893A>G	XP_006721579.2:p.Lys298Arg
XM_011523829.2:c.893A>G	XP_011522131.1:p.Lys298Arg
XM_011523830.2:c.893A>G	XP_011522132.1:p.Lys298Arg
XM_024450741.1:c.893A>G	XP_024306509.1:p.Lys298Arg
XR_934021.2:n.952A>G
XR_934022.2:n.952A>G
XR_934023.2:n.952A>G
NM_000018.4:c.893A>G MANE Select	NP_000009.1:p.Lys298Arg
NM_001033859.3:c.827A>G	NP_001029031.1:p.Lys276Arg
NM_001270447.2:c.962A>G	NP_001257376.1:p.Lys321Arg
NM_001270448.2:c.665A>G	NP_001257377.1:p.Lys222Arg