Canonical Allele Identifier: CA497694234

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127989A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224670A>G , CM000679.2:g.7224670A>G	GRCh38
NC_000017.10:g.7127989A>G , CM000679.1:g.7127989A>G	GRCh37
NC_000017.9:g.7068713A>G	NCBI36
NG_007975.1:g.9837A>G
NG_008391.2:g.381T>C
NG_033038.1:g.14875T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1707A>G MANE Select	ENSP00000349297.5:p.Ala569=
ENST00000322910.9:c.*1662A>G	ENSP00000325395.5:n.*1662A>G
ENST00000350303.9:c.1641A>G	ENSP00000344152.5:p.Ala547=
ENST00000356839.9:c.1707A>G	ENSP00000349297.5:p.Ala569=
ENST00000542255.6:c.537-45A>G
ENST00000543245.6:c.1776A>G	ENSP00000438689.2:p.Ala592=
ENST00000578033.1:n.38A>G
ENST00000578319.5:n.288A>G
ENST00000578711.1:n.1166A>G
ENST00000578809.5:n.279A>G
ENST00000579425.5:n.823A>G
ENST00000579546.1:c.442A>G
ENST00000583074.5:n.300-45A>G
ENST00000583848.5:c.73A>G	ENSP00000466487.1:p.Arg25Gly
ENST00000583850.5:n.478A>G
ENST00000583858.5:c.638A>G
ENST00000585203.6:n.898A>G
NM_000018.3:c.1707A>G	NP_000009.1:p.Ala569=
NM_001033859.2:c.1641A>G	NP_001029031.1:p.Ala547=
NM_001270447.1:c.1776A>G	NP_001257376.1:p.Ala592=
NM_001270448.1:c.1479A>G	NP_001257377.1:p.Ala493=
XM_006721516.2:c.1679-45A>G	XP_006721579.2:n.1679-45A>G
XM_011523829.1:c.1577-45A>G	XP_011522131.1:n.1577-45A>G
XM_011523830.1:c.1605A>G	XP_011522132.1:p.Ala535=
XR_934021.1:n.1810A>G
XR_934022.1:n.1716A>G
XR_934023.1:n.1688-45A>G
XM_006721516.3:c.1679-45A>G	XP_006721579.2:n.1679-45A>G
XM_011523829.2:c.1577-45A>G	XP_011522131.1:n.1577-45A>G
XM_011523830.2:c.1605A>G	XP_011522132.1:p.Ala535=
XM_024450741.1:c.1695A>G	XP_024306509.1:p.Ala565=
XR_934021.2:n.1762A>G
XR_934022.2:n.1668A>G
XR_934023.2:n.1640-45A>G
NM_000018.4:c.1707A>G MANE Select	NP_000009.1:p.Ala569=
NM_001033859.3:c.1641A>G	NP_001029031.1:p.Ala547=
NM_001270447.2:c.1776A>G	NP_001257376.1:p.Ala592=
NM_001270448.2:c.1479A>G	NP_001257377.1:p.Ala493=