Canonical Allele Identifier: CA397726267

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128411T>G (hg19) ; chr17:g.7225092T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225092T>G , CM000679.2:g.7225092T>G	GRCh38
NC_000017.10:g.7128411T>G , CM000679.1:g.7128411T>G	GRCh37
NC_000017.9:g.7069135T>G	NCBI36
NG_007975.1:g.10259T>G
NG_033038.1:g.14453A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1963T>G MANE Select	ENSP00000349297.5:p.Phe655Val
ENST00000322910.9:c.*1918T>G	ENSP00000325395.5:n.*1918T>G
ENST00000350303.9:c.1897T>G	ENSP00000344152.5:p.Phe633Val
ENST00000356839.9:c.1963T>G	ENSP00000349297.5:p.Phe655Val
ENST00000542255.6:c.842T>G
ENST00000543245.6:c.2032T>G	ENSP00000438689.2:p.Phe678Val
ENST00000578033.1:n.388T>G
ENST00000578319.5:n.544T>G
ENST00000578711.1:n.1588T>G
ENST00000578809.5:n.535T>G
ENST00000579425.5:n.1079T>G
ENST00000583848.5:c.329T>G	ENSP00000466487.1:n.329T>G
ENST00000583850.5:n.734T>G
ENST00000583858.5:c.894T>G
NM_000018.3:c.1963T>G	NP_000009.1:p.Phe655Val
NM_001033859.2:c.1897T>G	NP_001029031.1:p.Phe633Val
NM_001270447.1:c.2032T>G	NP_001257376.1:p.Phe678Val
NM_001270448.1:c.1735T>G	NP_001257377.1:p.Phe579Val
XM_006721516.2:c.1984T>G	XP_006721579.2:p.Phe662Val
XM_011523829.1:c.1882T>G	XP_011522131.1:p.Phe628Val
XM_011523830.1:c.1861T>G	XP_011522132.1:p.Phe621Val
XR_934021.1:n.2066T>G
XR_934022.1:n.1972T>G
XR_934023.1:n.1993T>G
XM_006721516.3:c.1984T>G	XP_006721579.2:p.Phe662Val
XM_011523829.2:c.1882T>G	XP_011522131.1:p.Phe628Val
XM_011523830.2:c.1861T>G	XP_011522132.1:p.Phe621Val
XM_024450741.1:c.1951T>G	XP_024306509.1:p.Phe651Val
XR_934021.2:n.2018T>G
XR_934022.2:n.1924T>G
XR_934023.2:n.1945T>G
NM_000018.4:c.1963T>G MANE Select	NP_000009.1:p.Phe655Val
NM_001033859.3:c.1897T>G	NP_001029031.1:p.Phe633Val
NM_001270447.2:c.2032T>G	NP_001257376.1:p.Phe678Val
NM_001270448.2:c.1735T>G	NP_001257377.1:p.Phe579Val