Canonical Allele Identifier: CA397725773

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128023G>T (hg19) ; chr17:g.7224704G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224704G>T , CM000679.2:g.7224704G>T	GRCh38
NC_000017.10:g.7128023G>T , CM000679.1:g.7128023G>T	GRCh37
NC_000017.9:g.7068747G>T	NCBI36
NG_007975.1:g.9871G>T
NG_008391.2:g.347C>A
NG_033038.1:g.14841C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1741G>T MANE Select	ENSP00000349297.5:p.Val581Phe
ENST00000322910.9:c.*1696G>T	ENSP00000325395.5:n.*1696G>T
ENST00000350303.9:c.1675G>T	ENSP00000344152.5:p.Val559Phe
ENST00000356839.9:c.1741G>T	ENSP00000349297.5:p.Val581Phe
ENST00000542255.6:c.537-11G>T
ENST00000543245.6:c.1810G>T	ENSP00000438689.2:p.Val604Phe
ENST00000578033.1:n.72G>T
ENST00000578319.5:n.322G>T
ENST00000578711.1:n.1200G>T
ENST00000578809.5:n.313G>T
ENST00000579425.5:n.857G>T
ENST00000579546.1:c.476G>T
ENST00000583074.5:n.300-11G>T
ENST00000583848.5:c.107G>T	ENSP00000466487.1:p.Gly36Val
ENST00000583850.5:n.512G>T
ENST00000583858.5:c.672G>T
ENST00000585203.6:n.932G>T
NM_000018.3:c.1741G>T	NP_000009.1:p.Val581Phe
NM_001033859.2:c.1675G>T	NP_001029031.1:p.Val559Phe
NM_001270447.1:c.1810G>T	NP_001257376.1:p.Val604Phe
NM_001270448.1:c.1513G>T	NP_001257377.1:p.Val505Phe
XM_006721516.2:c.1679-11G>T	XP_006721579.2:n.1679-11G>T
XM_011523829.1:c.1577-11G>T	XP_011522131.1:n.1577-11G>T
XM_011523830.1:c.1639G>T	XP_011522132.1:p.Val547Phe
XR_934021.1:n.1844G>T
XR_934022.1:n.1750G>T
XR_934023.1:n.1688-11G>T
XM_006721516.3:c.1679-11G>T	XP_006721579.2:n.1679-11G>T
XM_011523829.2:c.1577-11G>T	XP_011522131.1:n.1577-11G>T
XM_011523830.2:c.1639G>T	XP_011522132.1:p.Val547Phe
XM_024450741.1:c.1729G>T	XP_024306509.1:p.Val577Phe
XR_934021.2:n.1796G>T
XR_934022.2:n.1702G>T
XR_934023.2:n.1640-11G>T
NM_000018.4:c.1741G>T MANE Select	NP_000009.1:p.Val581Phe
NM_001033859.3:c.1675G>T	NP_001029031.1:p.Val559Phe
NM_001270447.2:c.1810G>T	NP_001257376.1:p.Val604Phe
NM_001270448.2:c.1513G>T	NP_001257377.1:p.Val505Phe