Canonical Allele Identifier: CA397723890

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125987G>C (hg19) ; chr17:g.7222668G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222668G>C , CM000679.2:g.7222668G>C	GRCh38
NC_000017.10:g.7125987G>C , CM000679.1:g.7125987G>C	GRCh37
NC_000017.9:g.7066711G>C	NCBI36
NG_007975.1:g.7835G>C
NG_008391.2:g.2383C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.880G>C MANE Select	ENSP00000349297.5:p.Gly294Arg
ENST00000322910.9:c.*835G>C	ENSP00000325395.5:n.*835G>C
ENST00000350303.9:c.814G>C	ENSP00000344152.5:p.Gly272Arg
ENST00000356839.9:c.880G>C	ENSP00000349297.5:p.Gly294Arg
ENST00000543245.6:c.949G>C	ENSP00000438689.2:p.Gly317Arg
ENST00000578824.5:n.29G>C
ENST00000581378.5:c.598G>C
ENST00000582379.1:n.264G>C
NM_000018.3:c.880G>C	NP_000009.1:p.Gly294Arg
NM_001033859.2:c.814G>C	NP_001029031.1:p.Gly272Arg
NM_001270447.1:c.949G>C	NP_001257376.1:p.Gly317Arg
NM_001270448.1:c.652G>C	NP_001257377.1:p.Gly218Arg
XM_006721516.2:c.880G>C	XP_006721579.2:p.Gly294Arg
XM_011523829.1:c.880G>C	XP_011522131.1:p.Gly294Arg
XM_011523830.1:c.880G>C	XP_011522132.1:p.Gly294Arg
XR_934021.1:n.987G>C
XR_934022.1:n.987G>C
XR_934023.1:n.987G>C
XM_006721516.3:c.880G>C	XP_006721579.2:p.Gly294Arg
XM_011523829.2:c.880G>C	XP_011522131.1:p.Gly294Arg
XM_011523830.2:c.880G>C	XP_011522132.1:p.Gly294Arg
XM_024450741.1:c.880G>C	XP_024306509.1:p.Gly294Arg
XR_934021.2:n.939G>C
XR_934022.2:n.939G>C
XR_934023.2:n.939G>C
NM_000018.4:c.880G>C MANE Select	NP_000009.1:p.Gly294Arg
NM_001033859.3:c.814G>C	NP_001029031.1:p.Gly272Arg
NM_001270447.2:c.949G>C	NP_001257376.1:p.Gly317Arg
NM_001270448.2:c.652G>C	NP_001257377.1:p.Gly218Arg