Canonical Allele Identifier: CA497694601

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071415445
• MyVariant Identifiers: chr17:g.7128398C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225079C>T , CM000679.2:g.7225079C>T	GRCh38
NC_000017.10:g.7128398C>T , CM000679.1:g.7128398C>T	GRCh37
NC_000017.9:g.7069122C>T	NCBI36
NG_007975.1:g.10246C>T
NG_033038.1:g.14466G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1950C>T MANE Select	ENSP00000349297.5:p.Ser650=
ENST00000322910.9:c.*1905C>T	ENSP00000325395.5:n.*1905C>T
ENST00000350303.9:c.1884C>T	ENSP00000344152.5:p.Ser628=
ENST00000356839.9:c.1950C>T	ENSP00000349297.5:p.Ser650=
ENST00000542255.6:c.829C>T
ENST00000543245.6:c.2019C>T	ENSP00000438689.2:p.Ser673=
ENST00000578033.1:n.375C>T
ENST00000578319.5:n.531C>T
ENST00000578711.1:n.1575C>T
ENST00000578809.5:n.522C>T
ENST00000579425.5:n.1066C>T
ENST00000583848.5:c.316C>T	ENSP00000466487.1:n.316C>T
ENST00000583850.5:n.721C>T
ENST00000583858.5:c.881C>T
NM_000018.3:c.1950C>T	NP_000009.1:p.Ser650=
NM_001033859.2:c.1884C>T	NP_001029031.1:p.Ser628=
NM_001270447.1:c.2019C>T	NP_001257376.1:p.Ser673=
NM_001270448.1:c.1722C>T	NP_001257377.1:p.Ser574=
XM_006721516.2:c.1971C>T	XP_006721579.2:p.Ser657=
XM_011523829.1:c.1869C>T	XP_011522131.1:p.Ser623=
XM_011523830.1:c.1848C>T	XP_011522132.1:p.Ser616=
XR_934021.1:n.2053C>T
XR_934022.1:n.1959C>T
XR_934023.1:n.1980C>T
XM_006721516.3:c.1971C>T	XP_006721579.2:p.Ser657=
XM_011523829.2:c.1869C>T	XP_011522131.1:p.Ser623=
XM_011523830.2:c.1848C>T	XP_011522132.1:p.Ser616=
XM_024450741.1:c.1938C>T	XP_024306509.1:p.Ser646=
XR_934021.2:n.2005C>T
XR_934022.2:n.1911C>T
XR_934023.2:n.1932C>T
NM_000018.4:c.1950C>T MANE Select	NP_000009.1:p.Ser650=
NM_001033859.3:c.1884C>T	NP_001029031.1:p.Ser628=
NM_001270447.2:c.2019C>T	NP_001257376.1:p.Ser673=
NM_001270448.2:c.1722C>T	NP_001257377.1:p.Ser574=