Canonical Allele Identifier: CA397726265

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071416399
• MyVariant Identifiers: chr17:g.7128411T>A (hg19) ; chr17:g.7225092T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1963T>A MANE Select	ENSP00000349297.5:p.Phe655Ile
ENST00000322910.9:c.*1918T>A	ENSP00000325395.5:n.*1918T>A
ENST00000350303.9:c.1897T>A	ENSP00000344152.5:p.Phe633Ile
ENST00000356839.9:c.1963T>A	ENSP00000349297.5:p.Phe655Ile
ENST00000542255.6:c.842T>A
ENST00000543245.6:c.2032T>A	ENSP00000438689.2:p.Phe678Ile
ENST00000578033.1:n.388T>A
ENST00000578319.5:n.544T>A
ENST00000578711.1:n.1588T>A
ENST00000578809.5:n.535T>A
ENST00000579425.5:n.1079T>A
ENST00000583848.5:c.329T>A	ENSP00000466487.1:n.329T>A
ENST00000583850.5:n.734T>A
ENST00000583858.5:c.894T>A
NM_000018.3:c.1963T>A	NP_000009.1:p.Phe655Ile
NM_001033859.2:c.1897T>A	NP_001029031.1:p.Phe633Ile
NM_001270447.1:c.2032T>A	NP_001257376.1:p.Phe678Ile
NM_001270448.1:c.1735T>A	NP_001257377.1:p.Phe579Ile
XM_006721516.2:c.1984T>A	XP_006721579.2:p.Phe662Ile
XM_011523829.1:c.1882T>A	XP_011522131.1:p.Phe628Ile
XM_011523830.1:c.1861T>A	XP_011522132.1:p.Phe621Ile
XR_934021.1:n.2066T>A
XR_934022.1:n.1972T>A
XR_934023.1:n.1993T>A
XM_006721516.3:c.1984T>A	XP_006721579.2:p.Phe662Ile
XM_011523829.2:c.1882T>A	XP_011522131.1:p.Phe628Ile
XM_011523830.2:c.1861T>A	XP_011522132.1:p.Phe621Ile
XM_024450741.1:c.1951T>A	XP_024306509.1:p.Phe651Ile
XR_934021.2:n.2018T>A
XR_934022.2:n.1924T>A
XR_934023.2:n.1945T>A
NM_000018.4:c.1963T>A MANE Select	NP_000009.1:p.Phe655Ile
NM_001033859.3:c.1897T>A	NP_001029031.1:p.Phe633Ile
NM_001270447.2:c.2032T>A	NP_001257376.1:p.Phe678Ile
NM_001270448.2:c.1735T>A	NP_001257377.1:p.Phe579Ile