Canonical Allele Identifier: CA397725616

Gene: ACADVL

Linked Data

• dbSNP Id: rs1238338378
• gnomAD v2: 17-7127865-A-G
• gnomAD v4: 17-7224546-A-G
• MyVariant Identifiers: chr17:g.7127865A>G (hg19) ; chr17:g.7224546A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224546A>G , CM000679.2:g.7224546A>G	GRCh38
NC_000017.10:g.7127865A>G , CM000679.1:g.7127865A>G	GRCh37
NC_000017.9:g.7068589A>G	NCBI36
NG_007975.1:g.9713A>G
NG_008391.2:g.505T>C
NG_033038.1:g.14999T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1672A>G MANE Select	ENSP00000349297.5:p.Ile558Val
ENST00000322910.9:c.*1627A>G	ENSP00000325395.5:n.*1627A>G
ENST00000350303.9:c.1606A>G	ENSP00000344152.5:p.Ile536Val
ENST00000356839.9:c.1672A>G	ENSP00000349297.5:p.Ile558Val
ENST00000542255.6:c.530A>G
ENST00000543245.6:c.1741A>G	ENSP00000438689.2:p.Ile581Val
ENST00000578319.5:n.253A>G
ENST00000578711.1:n.1042A>G
ENST00000578809.5:n.244A>G
ENST00000579391.1:n.276A>G
ENST00000579425.5:n.788A>G
ENST00000579546.1:c.407A>G
ENST00000582450.1:n.180A>G
ENST00000583074.5:n.293A>G
ENST00000583848.5:c.58A>G	ENSP00000466487.1:p.Ile20Val
ENST00000583850.5:n.443A>G
ENST00000583858.5:c.603A>G
ENST00000585203.6:n.863A>G
NM_000018.3:c.1672A>G	NP_000009.1:p.Ile558Val
NM_001033859.2:c.1606A>G	NP_001029031.1:p.Ile536Val
NM_001270447.1:c.1741A>G	NP_001257376.1:p.Ile581Val
NM_001270448.1:c.1444A>G	NP_001257377.1:p.Ile482Val
XM_006721516.2:c.1672A>G	XP_006721579.2:p.Ile558Val
XM_011523829.1:c.1570A>G	XP_011522131.1:p.Ile524Val
XM_011523830.1:c.1570A>G	XP_011522132.1:p.Ile524Val
XR_934021.1:n.1775A>G
XR_934022.1:n.1681A>G
XR_934023.1:n.1681A>G
XM_006721516.3:c.1672A>G	XP_006721579.2:p.Ile558Val
XM_011523829.2:c.1570A>G	XP_011522131.1:p.Ile524Val
XM_011523830.2:c.1570A>G	XP_011522132.1:p.Ile524Val
XM_024450741.1:c.1660A>G	XP_024306509.1:p.Ile554Val
XR_934021.2:n.1727A>G
XR_934022.2:n.1633A>G
XR_934023.2:n.1633A>G
NM_000018.4:c.1672A>G MANE Select	NP_000009.1:p.Ile558Val
NM_001033859.3:c.1606A>G	NP_001029031.1:p.Ile536Val
NM_001270447.2:c.1741A>G	NP_001257376.1:p.Ile581Val
NM_001270448.2:c.1444A>G	NP_001257377.1:p.Ile482Val