Canonical Allele Identifier: CA8338124

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224180C>G , CM000679.2:g.7224180C>G	GRCh38
NC_000017.10:g.7127499C>G , CM000679.1:g.7127499C>G	GRCh37
NC_000017.9:g.7068223C>G	NCBI36
NG_007975.1:g.9347C>G
NG_008391.2:g.871G>C
NG_033038.1:g.15365G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.4:c.1469C>G MANE Select	NP_000009.1:p.Ala490Gly
ENST00000356839.10:c.1469C>G MANE Select	ENSP00000349297.5:p.Ala490Gly
NM_000018.3:c.1469C>G	NP_000009.1:p.Ala490Gly
NM_001033859.2:c.1403C>G	NP_001029031.1:p.Ala468Gly
NM_001033859.3:c.1403C>G	NP_001029031.1:p.Ala468Gly
NM_001270447.1:c.1538C>G	NP_001257376.1:p.Ala513Gly
NM_001270447.2:c.1538C>G	NP_001257376.1:p.Ala513Gly
NM_001270448.1:c.1241C>G	NP_001257377.1:p.Ala414Gly
NM_001270448.2:c.1241C>G	NP_001257377.1:p.Ala414Gly
ENST00000322910.9:c.*1424C>G	ENSP00000325395.5:n.*1424C>G
ENST00000350303.9:c.1403C>G	ENSP00000344152.5:p.Ala468Gly
ENST00000356839.9:c.1469C>G	ENSP00000349297.5:p.Ala490Gly
ENST00000542255.6:c.327C>G
ENST00000543245.6:c.1538C>G	ENSP00000438689.2:p.Ala513Gly
ENST00000578711.1:n.676C>G
ENST00000579391.1:n.77C>G
ENST00000579425.5:n.585C>G
ENST00000579546.1:c.271+111C>G
ENST00000579894.5:n.256C>G
ENST00000583074.5:n.153+111C>G
ENST00000583850.5:n.244C>G
ENST00000583858.5:c.463+111C>G
ENST00000585203.6:n.660C>G
XM_006721516.2:c.1469C>G	XP_006721579.2:p.Ala490Gly
XM_006721516.3:c.1469C>G	XP_006721579.2:p.Ala490Gly
XM_011523829.1:c.1434+111C>G	XP_011522131.1:n.1434+111C>G
XM_011523829.2:c.1434+111C>G	XP_011522131.1:n.1434+111C>G
XM_011523830.1:c.1434+111C>G	XP_011522132.1:n.1434+111C>G
XM_011523830.2:c.1434+111C>G	XP_011522132.1:n.1434+111C>G
XM_024450741.1:c.1434+111C>G	XP_024306509.1:n.1434+111C>G
XR_934021.1:n.1576C>G
XR_934021.2:n.1528C>G
XR_934022.1:n.1541+111C>G
XR_934022.2:n.1493+111C>G
XR_934023.1:n.1541+111C>G
XR_934023.2:n.1493+111C>G