Canonical Allele Identifier: CA397725604

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127859A>G (hg19) ; chr17:g.7224540A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224540A>G , CM000679.2:g.7224540A>G	GRCh38
NC_000017.10:g.7127859A>G , CM000679.1:g.7127859A>G	GRCh37
NC_000017.9:g.7068583A>G	NCBI36
NG_007975.1:g.9707A>G
NG_008391.2:g.511T>C
NG_033038.1:g.15005T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1666A>G MANE Select	ENSP00000349297.5:p.Lys556Glu
ENST00000322910.9:c.*1621A>G	ENSP00000325395.5:n.*1621A>G
ENST00000350303.9:c.1600A>G	ENSP00000344152.5:p.Lys534Glu
ENST00000356839.9:c.1666A>G	ENSP00000349297.5:p.Lys556Glu
ENST00000542255.6:c.524A>G
ENST00000543245.6:c.1735A>G	ENSP00000438689.2:p.Lys579Glu
ENST00000578319.5:n.247A>G
ENST00000578711.1:n.1036A>G
ENST00000578809.5:n.238A>G
ENST00000579391.1:n.270A>G
ENST00000579425.5:n.782A>G
ENST00000579546.1:c.401A>G
ENST00000582450.1:n.174A>G
ENST00000583074.5:n.287A>G
ENST00000583848.5:c.52A>G	ENSP00000466487.1:p.Lys18Glu
ENST00000583850.5:n.437A>G
ENST00000583858.5:c.597A>G
ENST00000585203.6:n.857A>G
NM_000018.3:c.1666A>G	NP_000009.1:p.Lys556Glu
NM_001033859.2:c.1600A>G	NP_001029031.1:p.Lys534Glu
NM_001270447.1:c.1735A>G	NP_001257376.1:p.Lys579Glu
NM_001270448.1:c.1438A>G	NP_001257377.1:p.Lys480Glu
XM_006721516.2:c.1666A>G	XP_006721579.2:p.Lys556Glu
XM_011523829.1:c.1564A>G	XP_011522131.1:p.Lys522Glu
XM_011523830.1:c.1564A>G	XP_011522132.1:p.Lys522Glu
XR_934021.1:n.1769A>G
XR_934022.1:n.1675A>G
XR_934023.1:n.1675A>G
XM_006721516.3:c.1666A>G	XP_006721579.2:p.Lys556Glu
XM_011523829.2:c.1564A>G	XP_011522131.1:p.Lys522Glu
XM_011523830.2:c.1564A>G	XP_011522132.1:p.Lys522Glu
XM_024450741.1:c.1654A>G	XP_024306509.1:p.Lys552Glu
XR_934021.2:n.1721A>G
XR_934022.2:n.1627A>G
XR_934023.2:n.1627A>G
NM_000018.4:c.1666A>G MANE Select	NP_000009.1:p.Lys556Glu
NM_001033859.3:c.1600A>G	NP_001029031.1:p.Lys534Glu
NM_001270447.2:c.1735A>G	NP_001257376.1:p.Lys579Glu
NM_001270448.2:c.1438A>G	NP_001257377.1:p.Lys480Glu