Canonical Allele Identifier: CA397726269

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128412T>G (hg19) ; chr17:g.7225093T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225093T>G , CM000679.2:g.7225093T>G	GRCh38
NC_000017.10:g.7128412T>G , CM000679.1:g.7128412T>G	GRCh37
NC_000017.9:g.7069136T>G	NCBI36
NG_007975.1:g.10260T>G
NG_033038.1:g.14452A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1964T>G MANE Select	ENSP00000349297.5:p.Phe655Cys
ENST00000322910.9:c.*1919T>G	ENSP00000325395.5:n.*1919T>G
ENST00000350303.9:c.1898T>G	ENSP00000344152.5:p.Phe633Cys
ENST00000356839.9:c.1964T>G	ENSP00000349297.5:p.Phe655Cys
ENST00000542255.6:c.843T>G
ENST00000543245.6:c.2033T>G	ENSP00000438689.2:p.Phe678Cys
ENST00000578033.1:n.389T>G
ENST00000578319.5:n.545T>G
ENST00000578711.1:n.1589T>G
ENST00000578809.5:n.536T>G
ENST00000579425.5:n.1080T>G
ENST00000583848.5:c.330T>G	ENSP00000466487.1:n.330T>G
ENST00000583850.5:n.735T>G
ENST00000583858.5:c.895T>G
NM_000018.3:c.1964T>G	NP_000009.1:p.Phe655Cys
NM_001033859.2:c.1898T>G	NP_001029031.1:p.Phe633Cys
NM_001270447.1:c.2033T>G	NP_001257376.1:p.Phe678Cys
NM_001270448.1:c.1736T>G	NP_001257377.1:p.Phe579Cys
XM_006721516.2:c.1985T>G	XP_006721579.2:p.Phe662Cys
XM_011523829.1:c.1883T>G	XP_011522131.1:p.Phe628Cys
XM_011523830.1:c.1862T>G	XP_011522132.1:p.Phe621Cys
XR_934021.1:n.2067T>G
XR_934022.1:n.1973T>G
XR_934023.1:n.1994T>G
XM_006721516.3:c.1985T>G	XP_006721579.2:p.Phe662Cys
XM_011523829.2:c.1883T>G	XP_011522131.1:p.Phe628Cys
XM_011523830.2:c.1862T>G	XP_011522132.1:p.Phe621Cys
XM_024450741.1:c.1952T>G	XP_024306509.1:p.Phe651Cys
XR_934021.2:n.2019T>G
XR_934022.2:n.1925T>G
XR_934023.2:n.1946T>G
NM_000018.4:c.1964T>G MANE Select	NP_000009.1:p.Phe655Cys
NM_001033859.3:c.1898T>G	NP_001029031.1:p.Phe633Cys
NM_001270447.2:c.2033T>G	NP_001257376.1:p.Phe678Cys
NM_001270448.2:c.1736T>G	NP_001257377.1:p.Phe579Cys