Canonical Allele Identifier: CA397725422

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127690A>C (hg19) ; chr17:g.7224371A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224371A>C , CM000679.2:g.7224371A>C	GRCh38
NC_000017.10:g.7127690A>C , CM000679.1:g.7127690A>C	GRCh37
NC_000017.9:g.7068414A>C	NCBI36
NG_007975.1:g.9538A>C
NG_008391.2:g.680T>G
NG_033038.1:g.15174T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1583A>C MANE Select	ENSP00000349297.5:p.Glu528Ala
ENST00000322910.9:c.*1538A>C	ENSP00000325395.5:n.*1538A>C
ENST00000350303.9:c.1517A>C	ENSP00000344152.5:p.Glu506Ala
ENST00000356839.9:c.1583A>C	ENSP00000349297.5:p.Glu528Ala
ENST00000542255.6:c.441A>C
ENST00000543245.6:c.1652A>C	ENSP00000438689.2:p.Glu551Ala
ENST00000578319.5:n.78A>C
ENST00000578711.1:n.867A>C
ENST00000578809.5:n.155A>C
ENST00000579391.1:n.191A>C
ENST00000579425.5:n.699A>C
ENST00000579546.1:c.322A>C
ENST00000579894.5:n.370A>C
ENST00000582450.1:n.91A>C
ENST00000583074.5:n.204A>C
ENST00000583850.5:n.358A>C
ENST00000583858.5:c.514A>C
ENST00000585203.6:n.774A>C
NM_000018.3:c.1583A>C	NP_000009.1:p.Glu528Ala
NM_001033859.2:c.1517A>C	NP_001029031.1:p.Glu506Ala
NM_001270447.1:c.1652A>C	NP_001257376.1:p.Glu551Ala
NM_001270448.1:c.1355A>C	NP_001257377.1:p.Glu452Ala
XM_006721516.2:c.1583A>C	XP_006721579.2:p.Glu528Ala
XM_011523829.1:c.1485A>C	XP_011522131.1:p.Gly495=
XM_011523830.1:c.1485A>C	XP_011522132.1:p.Gly495=
XR_934021.1:n.1690A>C
XR_934022.1:n.1592A>C
XR_934023.1:n.1592A>C
XM_006721516.3:c.1583A>C	XP_006721579.2:p.Glu528Ala
XM_011523829.2:c.1485A>C	XP_011522131.1:p.Gly495=
XM_011523830.2:c.1485A>C	XP_011522132.1:p.Gly495=
XM_024450741.1:c.1485A>C	XP_024306509.1:p.Gly495=
XR_934021.2:n.1642A>C
XR_934022.2:n.1544A>C
XR_934023.2:n.1544A>C
NM_000018.4:c.1583A>C MANE Select	NP_000009.1:p.Glu528Ala
NM_001033859.3:c.1517A>C	NP_001029031.1:p.Glu506Ala
NM_001270447.2:c.1652A>C	NP_001257376.1:p.Glu551Ala
NM_001270448.2:c.1355A>C	NP_001257377.1:p.Glu452Ala