Canonical Allele Identifier: CA397723379

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2119415
• ClinVar RCV Id: RCV003033079
• MyVariant Identifiers: chr17:g.7125292G>T (hg19) ; chr17:g.7221973G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221973G>T , CM000679.2:g.7221973G>T	GRCh38
NC_000017.10:g.7125292G>T , CM000679.1:g.7125292G>T	GRCh37
NC_000017.9:g.7066016G>T	NCBI36
NG_007975.1:g.7140G>T
NG_008391.2:g.3078C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.644G>T MANE Select	ENSP00000349297.5:p.Cys215Phe
ENST00000322910.9:c.*599G>T	ENSP00000325395.5:n.*599G>T
ENST00000350303.9:c.578G>T	ENSP00000344152.5:p.Cys193Phe
ENST00000356839.9:c.644G>T	ENSP00000349297.5:p.Cys215Phe
ENST00000543245.6:c.713G>T	ENSP00000438689.2:p.Cys238Phe
ENST00000577191.5:n.721G>T
ENST00000577857.5:n.460G>T
ENST00000579286.5:n.825G>T
ENST00000580365.1:n.375G>T
ENST00000581378.5:c.362G>T
ENST00000581562.5:n.546G>T
ENST00000582379.1:n.28G>T
ENST00000583312.5:c.659G>T	ENSP00000467920.1:p.Cys220Phe
ENST00000583760.1:n.426G>T
NM_000018.3:c.644G>T	NP_000009.1:p.Cys215Phe
NM_001033859.2:c.578G>T	NP_001029031.1:p.Cys193Phe
NM_001270447.1:c.713G>T	NP_001257376.1:p.Cys238Phe
NM_001270448.1:c.416G>T	NP_001257377.1:p.Cys139Phe
XM_006721516.2:c.644G>T	XP_006721579.2:p.Cys215Phe
XM_011523829.1:c.644G>T	XP_011522131.1:p.Cys215Phe
XM_011523830.1:c.644G>T	XP_011522132.1:p.Cys215Phe
XR_934021.1:n.751G>T
XR_934022.1:n.751G>T
XR_934023.1:n.751G>T
XM_006721516.3:c.644G>T	XP_006721579.2:p.Cys215Phe
XM_011523829.2:c.644G>T	XP_011522131.1:p.Cys215Phe
XM_011523830.2:c.644G>T	XP_011522132.1:p.Cys215Phe
XM_024450741.1:c.644G>T	XP_024306509.1:p.Cys215Phe
XR_934021.2:n.703G>T
XR_934022.2:n.703G>T
XR_934023.2:n.703G>T
NM_000018.4:c.644G>T MANE Select	NP_000009.1:p.Cys215Phe
NM_001033859.3:c.578G>T	NP_001029031.1:p.Cys193Phe
NM_001270447.2:c.713G>T	NP_001257376.1:p.Cys238Phe
NM_001270448.2:c.416G>T	NP_001257377.1:p.Cys139Phe