Canonical Allele Identifier: CA397724523

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7126554G>C (hg19) ; chr17:g.7223235G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223235G>C , CM000679.2:g.7223235G>C	GRCh38
NC_000017.10:g.7126554G>C , CM000679.1:g.7126554G>C	GRCh37
NC_000017.9:g.7067278G>C	NCBI36
NG_007975.1:g.8402G>C
NG_008391.2:g.1816C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1180G>C MANE Select	ENSP00000349297.5:p.Glu394Gln
ENST00000322910.9:c.*1135G>C	ENSP00000325395.5:n.*1135G>C
ENST00000350303.9:c.1114G>C	ENSP00000344152.5:p.Glu372Gln
ENST00000356839.9:c.1180G>C	ENSP00000349297.5:p.Glu394Gln
ENST00000542255.6:c.38G>C
ENST00000543245.6:c.1249G>C	ENSP00000438689.2:p.Glu417Gln
ENST00000578579.2:n.129G>C
ENST00000578824.5:n.596G>C
ENST00000579425.5:n.204G>C
ENST00000579546.1:c.17G>C
ENST00000582379.1:n.831G>C
ENST00000583858.5:c.209G>C
ENST00000585203.6:n.388G>C
NM_000018.3:c.1180G>C	NP_000009.1:p.Glu394Gln
NM_001033859.2:c.1114G>C	NP_001029031.1:p.Glu372Gln
NM_001270447.1:c.1249G>C	NP_001257376.1:p.Glu417Gln
NM_001270448.1:c.952G>C	NP_001257377.1:p.Glu318Gln
XM_006721516.2:c.1180G>C	XP_006721579.2:p.Glu394Gln
XM_011523829.1:c.1180G>C	XP_011522131.1:p.Glu394Gln
XM_011523830.1:c.1180G>C	XP_011522132.1:p.Glu394Gln
XR_934021.1:n.1287G>C
XR_934022.1:n.1287G>C
XR_934023.1:n.1287G>C
XM_006721516.3:c.1180G>C	XP_006721579.2:p.Glu394Gln
XM_011523829.2:c.1180G>C	XP_011522131.1:p.Glu394Gln
XM_011523830.2:c.1180G>C	XP_011522132.1:p.Glu394Gln
XM_024450741.1:c.1180G>C	XP_024306509.1:p.Glu394Gln
XR_934021.2:n.1239G>C
XR_934022.2:n.1239G>C
XR_934023.2:n.1239G>C
NM_000018.4:c.1180G>C MANE Select	NP_000009.1:p.Glu394Gln
NM_001033859.3:c.1114G>C	NP_001029031.1:p.Glu372Gln
NM_001270447.2:c.1249G>C	NP_001257376.1:p.Glu417Gln
NM_001270448.2:c.952G>C	NP_001257377.1:p.Glu318Gln