Canonical Allele Identifier: CA397726104

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128334A>C (hg19) ; chr17:g.7225015A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225015A>C , CM000679.2:g.7225015A>C	GRCh38
NC_000017.10:g.7128334A>C , CM000679.1:g.7128334A>C	GRCh37
NC_000017.9:g.7069058A>C	NCBI36
NG_007975.1:g.10182A>C
NG_008391.2:g.36T>G
NG_033038.1:g.14530T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1886A>C MANE Select	ENSP00000349297.5:p.Glu629Ala
ENST00000322910.9:c.*1841A>C	ENSP00000325395.5:n.*1841A>C
ENST00000350303.9:c.1820A>C	ENSP00000344152.5:p.Glu607Ala
ENST00000356839.9:c.1886A>C	ENSP00000349297.5:p.Glu629Ala
ENST00000542255.6:c.765A>C
ENST00000543245.6:c.1955A>C	ENSP00000438689.2:p.Glu652Ala
ENST00000578033.1:n.311A>C
ENST00000578319.5:n.467A>C
ENST00000578711.1:n.1511A>C
ENST00000578809.5:n.458A>C
ENST00000579425.5:n.1002A>C
ENST00000583848.5:c.252A>C	ENSP00000466487.1:n.252A>C
ENST00000583850.5:n.657A>C
ENST00000583858.5:c.817A>C
NM_000018.3:c.1886A>C	NP_000009.1:p.Glu629Ala
NM_001033859.2:c.1820A>C	NP_001029031.1:p.Glu607Ala
NM_001270447.1:c.1955A>C	NP_001257376.1:p.Glu652Ala
NM_001270448.1:c.1658A>C	NP_001257377.1:p.Glu553Ala
XM_006721516.2:c.1907A>C	XP_006721579.2:p.Glu636Ala
XM_011523829.1:c.1805A>C	XP_011522131.1:p.Glu602Ala
XM_011523830.1:c.1784A>C	XP_011522132.1:p.Glu595Ala
XR_934021.1:n.1989A>C
XR_934022.1:n.1895A>C
XR_934023.1:n.1916A>C
XM_006721516.3:c.1907A>C	XP_006721579.2:p.Glu636Ala
XM_011523829.2:c.1805A>C	XP_011522131.1:p.Glu602Ala
XM_011523830.2:c.1784A>C	XP_011522132.1:p.Glu595Ala
XM_024450741.1:c.1874A>C	XP_024306509.1:p.Glu625Ala
XR_934021.2:n.1941A>C
XR_934022.2:n.1847A>C
XR_934023.2:n.1868A>C
NM_000018.4:c.1886A>C MANE Select	NP_000009.1:p.Glu629Ala
NM_001033859.3:c.1820A>C	NP_001029031.1:p.Glu607Ala
NM_001270447.2:c.1955A>C	NP_001257376.1:p.Glu652Ala
NM_001270448.2:c.1658A>C	NP_001257377.1:p.Glu553Ala