Canonical Allele Identifier: CA397725425

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127691G>C (hg19) ; chr17:g.7224372G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224372G>C , CM000679.2:g.7224372G>C	GRCh38
NC_000017.10:g.7127691G>C , CM000679.1:g.7127691G>C	GRCh37
NC_000017.9:g.7068415G>C	NCBI36
NG_007975.1:g.9539G>C
NG_008391.2:g.679C>G
NG_033038.1:g.15173C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1584G>C MANE Select	ENSP00000349297.5:p.Glu528Asp
ENST00000322910.9:c.*1539G>C	ENSP00000325395.5:n.*1539G>C
ENST00000350303.9:c.1518G>C	ENSP00000344152.5:p.Glu506Asp
ENST00000356839.9:c.1584G>C	ENSP00000349297.5:p.Glu528Asp
ENST00000542255.6:c.442G>C
ENST00000543245.6:c.1653G>C	ENSP00000438689.2:p.Glu551Asp
ENST00000578319.5:n.79G>C
ENST00000578711.1:n.868G>C
ENST00000578809.5:n.156G>C
ENST00000579391.1:n.192G>C
ENST00000579425.5:n.700G>C
ENST00000579546.1:c.323G>C
ENST00000579894.5:n.371G>C
ENST00000582450.1:n.92G>C
ENST00000583074.5:n.205G>C
ENST00000583850.5:n.359G>C
ENST00000583858.5:c.515G>C
ENST00000585203.6:n.775G>C
NM_000018.3:c.1584G>C	NP_000009.1:p.Glu528Asp
NM_001033859.2:c.1518G>C	NP_001029031.1:p.Glu506Asp
NM_001270447.1:c.1653G>C	NP_001257376.1:p.Glu551Asp
NM_001270448.1:c.1356G>C	NP_001257377.1:p.Glu452Asp
XM_006721516.2:c.1584G>C	XP_006721579.2:p.Glu528Asp
XM_011523829.1:c.1486G>C	XP_011522131.1:p.Val496Leu
XM_011523830.1:c.1486G>C	XP_011522132.1:p.Val496Leu
XR_934021.1:n.1691G>C
XR_934022.1:n.1593G>C
XR_934023.1:n.1593G>C
XM_006721516.3:c.1584G>C	XP_006721579.2:p.Glu528Asp
XM_011523829.2:c.1486G>C	XP_011522131.1:p.Val496Leu
XM_011523830.2:c.1486G>C	XP_011522132.1:p.Val496Leu
XM_024450741.1:c.1486G>C	XP_024306509.1:p.Val496Leu
XR_934021.2:n.1643G>C
XR_934022.2:n.1545G>C
XR_934023.2:n.1545G>C
NM_000018.4:c.1584G>C MANE Select	NP_000009.1:p.Glu528Asp
NM_001033859.3:c.1518G>C	NP_001029031.1:p.Glu506Asp
NM_001270447.2:c.1653G>C	NP_001257376.1:p.Glu551Asp
NM_001270448.2:c.1356G>C	NP_001257377.1:p.Glu452Asp