Canonical Allele Identifier: CA397723429

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125316C>T (hg19) ; chr17:g.7221997C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221997C>T , CM000679.2:g.7221997C>T	GRCh38
NC_000017.10:g.7125316C>T , CM000679.1:g.7125316C>T	GRCh37
NC_000017.9:g.7066040C>T	NCBI36
NG_007975.1:g.7164C>T
NG_008391.2:g.3054G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.668C>T MANE Select	ENSP00000349297.5:p.Ser223Leu
ENST00000322910.9:c.*623C>T	ENSP00000325395.5:n.*623C>T
ENST00000350303.9:c.602C>T	ENSP00000344152.5:p.Ser201Leu
ENST00000356839.9:c.668C>T	ENSP00000349297.5:p.Ser223Leu
ENST00000543245.6:c.737C>T	ENSP00000438689.2:p.Ser246Leu
ENST00000577191.5:n.745C>T
ENST00000577857.5:n.484C>T
ENST00000579286.5:n.849C>T
ENST00000580365.1:n.399C>T
ENST00000581378.5:c.386C>T
ENST00000581562.5:n.570C>T
ENST00000582379.1:n.52C>T
ENST00000583760.1:n.450C>T
NM_000018.3:c.668C>T	NP_000009.1:p.Ser223Leu
NM_001033859.2:c.602C>T	NP_001029031.1:p.Ser201Leu
NM_001270447.1:c.737C>T	NP_001257376.1:p.Ser246Leu
NM_001270448.1:c.440C>T	NP_001257377.1:p.Ser147Leu
XM_006721516.2:c.668C>T	XP_006721579.2:p.Ser223Leu
XM_011523829.1:c.668C>T	XP_011522131.1:p.Ser223Leu
XM_011523830.1:c.668C>T	XP_011522132.1:p.Ser223Leu
XR_934021.1:n.775C>T
XR_934022.1:n.775C>T
XR_934023.1:n.775C>T
XM_006721516.3:c.668C>T	XP_006721579.2:p.Ser223Leu
XM_011523829.2:c.668C>T	XP_011522131.1:p.Ser223Leu
XM_011523830.2:c.668C>T	XP_011522132.1:p.Ser223Leu
XM_024450741.1:c.668C>T	XP_024306509.1:p.Ser223Leu
XR_934021.2:n.727C>T
XR_934022.2:n.727C>T
XR_934023.2:n.727C>T
NM_000018.4:c.668C>T MANE Select	NP_000009.1:p.Ser223Leu
NM_001033859.3:c.602C>T	NP_001029031.1:p.Ser201Leu
NM_001270447.2:c.737C>T	NP_001257376.1:p.Ser246Leu
NM_001270448.2:c.440C>T	NP_001257377.1:p.Ser147Leu