Canonical Allele Identifier: CA397723093

Gene: ACADVL

Linked Data

• dbSNP Id: rs1300720825
• MyVariant Identifiers: chr17:g.7124905A>G (hg19) ; chr17:g.7221586A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221586A>G , CM000679.2:g.7221586A>G	GRCh38
NC_000017.10:g.7124905A>G , CM000679.1:g.7124905A>G	GRCh37
NC_000017.9:g.7065629A>G	NCBI36
NG_007975.1:g.6753A>G
NG_008391.2:g.3465T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.526A>G MANE Select	ENSP00000349297.5:p.Ile176Val
ENST00000322910.9:c.*481A>G	ENSP00000325395.5:n.*481A>G
ENST00000350303.9:c.460A>G	ENSP00000344152.5:p.Ile154Val
ENST00000356839.9:c.526A>G	ENSP00000349297.5:p.Ile176Val
ENST00000543245.6:c.595A>G	ENSP00000438689.2:p.Ile199Val
ENST00000577191.5:n.603A>G
ENST00000577433.5:n.734A>G
ENST00000577857.5:n.342A>G
ENST00000579286.5:n.707A>G
ENST00000579886.2:c.364A>G	ENSP00000463246.1:p.Ile122Val
ENST00000580365.1:n.257A>G
ENST00000581378.5:c.244A>G
ENST00000581562.5:n.525-366A>G
ENST00000582166.1:n.507A>G
ENST00000583312.5:c.526A>G	ENSP00000467920.1:p.Ile176Val
ENST00000583760.1:n.308A>G
NM_000018.3:c.526A>G	NP_000009.1:p.Ile176Val
NM_001033859.2:c.460A>G	NP_001029031.1:p.Ile154Val
NM_001270447.1:c.595A>G	NP_001257376.1:p.Ile199Val
NM_001270448.1:c.298A>G	NP_001257377.1:p.Ile100Val
XM_006721516.2:c.526A>G	XP_006721579.2:p.Ile176Val
XM_011523829.1:c.526A>G	XP_011522131.1:p.Ile176Val
XM_011523830.1:c.526A>G	XP_011522132.1:p.Ile176Val
XR_934021.1:n.633A>G
XR_934022.1:n.633A>G
XR_934023.1:n.633A>G
XM_006721516.3:c.526A>G	XP_006721579.2:p.Ile176Val
XM_011523829.2:c.526A>G	XP_011522131.1:p.Ile176Val
XM_011523830.2:c.526A>G	XP_011522132.1:p.Ile176Val
XM_024450741.1:c.526A>G	XP_024306509.1:p.Ile176Val
XR_934021.2:n.585A>G
XR_934022.2:n.585A>G
XR_934023.2:n.585A>G
NM_000018.4:c.526A>G MANE Select	NP_000009.1:p.Ile176Val
NM_001033859.3:c.460A>G	NP_001029031.1:p.Ile154Val
NM_001270447.2:c.595A>G	NP_001257376.1:p.Ile199Val
NM_001270448.2:c.298A>G	NP_001257377.1:p.Ile100Val