Canonical Allele Identifier: CA397726198

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128376A>C (hg19) ; chr17:g.7225057A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225057A>C , CM000679.2:g.7225057A>C	GRCh38
NC_000017.10:g.7128376A>C , CM000679.1:g.7128376A>C	GRCh37
NC_000017.9:g.7069100A>C	NCBI36
NG_007975.1:g.10224A>C
NG_033038.1:g.14488T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1928A>C MANE Select	ENSP00000349297.5:p.Glu643Ala
ENST00000322910.9:c.*1883A>C	ENSP00000325395.5:n.*1883A>C
ENST00000350303.9:c.1862A>C	ENSP00000344152.5:p.Glu621Ala
ENST00000356839.9:c.1928A>C	ENSP00000349297.5:p.Glu643Ala
ENST00000542255.6:c.807A>C
ENST00000543245.6:c.1997A>C	ENSP00000438689.2:p.Glu666Ala
ENST00000578033.1:n.353A>C
ENST00000578319.5:n.509A>C
ENST00000578711.1:n.1553A>C
ENST00000578809.5:n.500A>C
ENST00000579425.5:n.1044A>C
ENST00000583848.5:c.294A>C	ENSP00000466487.1:n.294A>C
ENST00000583850.5:n.699A>C
ENST00000583858.5:c.859A>C
NM_000018.3:c.1928A>C	NP_000009.1:p.Glu643Ala
NM_001033859.2:c.1862A>C	NP_001029031.1:p.Glu621Ala
NM_001270447.1:c.1997A>C	NP_001257376.1:p.Glu666Ala
NM_001270448.1:c.1700A>C	NP_001257377.1:p.Glu567Ala
XM_006721516.2:c.1949A>C	XP_006721579.2:p.Glu650Ala
XM_011523829.1:c.1847A>C	XP_011522131.1:p.Glu616Ala
XM_011523830.1:c.1826A>C	XP_011522132.1:p.Glu609Ala
XR_934021.1:n.2031A>C
XR_934022.1:n.1937A>C
XR_934023.1:n.1958A>C
XM_006721516.3:c.1949A>C	XP_006721579.2:p.Glu650Ala
XM_011523829.2:c.1847A>C	XP_011522131.1:p.Glu616Ala
XM_011523830.2:c.1826A>C	XP_011522132.1:p.Glu609Ala
XM_024450741.1:c.1916A>C	XP_024306509.1:p.Glu639Ala
XR_934021.2:n.1983A>C
XR_934022.2:n.1889A>C
XR_934023.2:n.1910A>C
NM_000018.4:c.1928A>C MANE Select	NP_000009.1:p.Glu643Ala
NM_001033859.3:c.1862A>C	NP_001029031.1:p.Glu621Ala
NM_001270447.2:c.1997A>C	NP_001257376.1:p.Glu666Ala
NM_001270448.2:c.1700A>C	NP_001257377.1:p.Glu567Ala