Canonical Allele Identifier: CA341520

Gene: ACADVL

Linked Data

• dbSNP Id: rs9674
• MyVariant Identifiers: chr17:g.7128413C>T (hg19) ; chr17:g.7225094C>T (hg38)
• PubMed: PMID:20301763

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225094C>T , CM000679.2:g.7225094C>T	GRCh38
NC_000017.10:g.7128413C>T , CM000679.1:g.7128413C>T	GRCh37
NC_000017.9:g.7069137C>T	NCBI36
NG_007975.1:g.10261C>T
NG_033038.1:g.14451G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1965C>T MANE Select	ENSP00000349297.5:p.Phe655=
ENST00000322910.9:c.*1920C>T	ENSP00000325395.5:n.*1920C>T
ENST00000350303.9:c.1899C>T	ENSP00000344152.5:p.Phe633=
ENST00000356839.9:c.1965C>T	ENSP00000349297.5:p.Phe655=
ENST00000542255.6:c.844C>T
ENST00000543245.6:c.2034C>T	ENSP00000438689.2:p.Phe678=
ENST00000578033.1:n.390C>T
ENST00000578319.5:n.546C>T
ENST00000578711.1:n.1590C>T
ENST00000578809.5:n.537C>T
ENST00000579425.5:n.1081C>T
ENST00000583848.5:c.331C>T	ENSP00000466487.1:n.331C>T
ENST00000583850.5:n.736C>T
ENST00000583858.5:c.896C>T
NM_000018.3:c.1965C>T	NP_000009.1:p.Phe655=
NM_001033859.2:c.1899C>T	NP_001029031.1:p.Phe633=
NM_001270447.1:c.2034C>T	NP_001257376.1:p.Phe678=
NM_001270448.1:c.1737C>T	NP_001257377.1:p.Phe579=
XM_006721516.2:c.1986C>T	XP_006721579.2:p.Phe662=
XM_011523829.1:c.1884C>T	XP_011522131.1:p.Phe628=
XM_011523830.1:c.1863C>T	XP_011522132.1:p.Phe621=
XR_934021.1:n.2068C>T
XR_934022.1:n.1974C>T
XR_934023.1:n.1995C>T
XM_006721516.3:c.1986C>T	XP_006721579.2:p.Phe662=
XM_011523829.2:c.1884C>T	XP_011522131.1:p.Phe628=
XM_011523830.2:c.1863C>T	XP_011522132.1:p.Phe621=
XM_024450741.1:c.1953C>T	XP_024306509.1:p.Phe651=
XR_934021.2:n.2020C>T
XR_934022.2:n.1926C>T
XR_934023.2:n.1947C>T
NM_000018.4:c.1965C>T MANE Select	NP_000009.1:p.Phe655=
NM_001033859.3:c.1899C>T	NP_001029031.1:p.Phe633=
NM_001270447.2:c.2034C>T	NP_001257376.1:p.Phe678=
NM_001270448.2:c.1737C>T	NP_001257377.1:p.Phe579=