Canonical Allele Identifier: CA397724927

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127300A>C (hg19) ; chr17:g.7223981A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223981A>C , CM000679.2:g.7223981A>C	GRCh38
NC_000017.10:g.7127300A>C , CM000679.1:g.7127300A>C	GRCh37
NC_000017.9:g.7068024A>C	NCBI36
NG_007975.1:g.9148A>C
NG_008391.2:g.1070T>G
NG_033038.1:g.15564T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1346A>C MANE Select	ENSP00000349297.5:p.Glu449Ala
ENST00000322910.9:c.*1301A>C	ENSP00000325395.5:n.*1301A>C
ENST00000350303.9:c.1280A>C	ENSP00000344152.5:p.Glu427Ala
ENST00000356839.9:c.1346A>C	ENSP00000349297.5:p.Glu449Ala
ENST00000542255.6:c.204A>C
ENST00000543245.6:c.1415A>C	ENSP00000438689.2:p.Glu472Ala
ENST00000578711.1:n.477A>C
ENST00000579425.5:n.462A>C
ENST00000579546.1:c.183A>C
ENST00000579894.5:n.57A>C
ENST00000583074.5:n.65A>C
ENST00000583850.5:n.121A>C
ENST00000583858.5:c.375A>C
ENST00000585203.6:n.537A>C
NM_000018.3:c.1346A>C	NP_000009.1:p.Glu449Ala
NM_001033859.2:c.1280A>C	NP_001029031.1:p.Glu427Ala
NM_001270447.1:c.1415A>C	NP_001257376.1:p.Glu472Ala
NM_001270448.1:c.1118A>C	NP_001257377.1:p.Glu373Ala
XM_006721516.2:c.1346A>C	XP_006721579.2:p.Glu449Ala
XM_011523829.1:c.1346A>C	XP_011522131.1:p.Glu449Ala
XM_011523830.1:c.1346A>C	XP_011522132.1:p.Glu449Ala
XR_934021.1:n.1453A>C
XR_934022.1:n.1453A>C
XR_934023.1:n.1453A>C
XM_006721516.3:c.1346A>C	XP_006721579.2:p.Glu449Ala
XM_011523829.2:c.1346A>C	XP_011522131.1:p.Glu449Ala
XM_011523830.2:c.1346A>C	XP_011522132.1:p.Glu449Ala
XM_024450741.1:c.1346A>C	XP_024306509.1:p.Glu449Ala
XR_934021.2:n.1405A>C
XR_934022.2:n.1405A>C
XR_934023.2:n.1405A>C
NM_000018.4:c.1346A>C MANE Select	NP_000009.1:p.Glu449Ala
NM_001033859.3:c.1280A>C	NP_001029031.1:p.Glu427Ala
NM_001270447.2:c.1415A>C	NP_001257376.1:p.Glu472Ala
NM_001270448.2:c.1118A>C	NP_001257377.1:p.Glu373Ala