Canonical Allele Identifier: CA497694016

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125329C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222010C>A , CM000679.2:g.7222010C>A	GRCh38
NC_000017.10:g.7125329C>A , CM000679.1:g.7125329C>A	GRCh37
NC_000017.9:g.7066053C>A	NCBI36
NG_007975.1:g.7177C>A
NG_008391.2:g.3041G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.681C>A MANE Select	ENSP00000349297.5:p.Ser227=
ENST00000322910.9:c.*636C>A	ENSP00000325395.5:n.*636C>A
ENST00000350303.9:c.615C>A	ENSP00000344152.5:p.Ser205=
ENST00000356839.9:c.681C>A	ENSP00000349297.5:p.Ser227=
ENST00000543245.6:c.750C>A	ENSP00000438689.2:p.Ser250=
ENST00000577191.5:n.758C>A
ENST00000577857.5:n.497C>A
ENST00000579286.5:n.862C>A
ENST00000580365.1:n.412C>A
ENST00000581378.5:c.399C>A
ENST00000582379.1:n.65C>A
ENST00000583760.1:n.463C>A
NM_000018.3:c.681C>A	NP_000009.1:p.Ser227=
NM_001033859.2:c.615C>A	NP_001029031.1:p.Ser205=
NM_001270447.1:c.750C>A	NP_001257376.1:p.Ser250=
NM_001270448.1:c.453C>A	NP_001257377.1:p.Ser151=
XM_006721516.2:c.681C>A	XP_006721579.2:p.Ser227=
XM_011523829.1:c.681C>A	XP_011522131.1:p.Ser227=
XM_011523830.1:c.681C>A	XP_011522132.1:p.Ser227=
XR_934021.1:n.788C>A
XR_934022.1:n.788C>A
XR_934023.1:n.788C>A
XM_006721516.3:c.681C>A	XP_006721579.2:p.Ser227=
XM_011523829.2:c.681C>A	XP_011522131.1:p.Ser227=
XM_011523830.2:c.681C>A	XP_011522132.1:p.Ser227=
XM_024450741.1:c.681C>A	XP_024306509.1:p.Ser227=
XR_934021.2:n.740C>A
XR_934022.2:n.740C>A
XR_934023.2:n.740C>A
NM_000018.4:c.681C>A MANE Select	NP_000009.1:p.Ser227=
NM_001033859.3:c.615C>A	NP_001029031.1:p.Ser205=
NM_001270447.2:c.750C>A	NP_001257376.1:p.Ser250=
NM_001270448.2:c.453C>A	NP_001257377.1:p.Ser151=