Canonical Allele Identifier: CA397726240

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128398C>G (hg19) ; chr17:g.7225079C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1950C>G MANE Select	ENSP00000349297.5:p.Ser650Arg
ENST00000322910.9:c.*1905C>G	ENSP00000325395.5:n.*1905C>G
ENST00000350303.9:c.1884C>G	ENSP00000344152.5:p.Ser628Arg
ENST00000356839.9:c.1950C>G	ENSP00000349297.5:p.Ser650Arg
ENST00000542255.6:c.829C>G
ENST00000543245.6:c.2019C>G	ENSP00000438689.2:p.Ser673Arg
ENST00000578033.1:n.375C>G
ENST00000578319.5:n.531C>G
ENST00000578711.1:n.1575C>G
ENST00000578809.5:n.522C>G
ENST00000579425.5:n.1066C>G
ENST00000583848.5:c.316C>G	ENSP00000466487.1:n.316C>G
ENST00000583850.5:n.721C>G
ENST00000583858.5:c.881C>G
NM_000018.3:c.1950C>G	NP_000009.1:p.Ser650Arg
NM_001033859.2:c.1884C>G	NP_001029031.1:p.Ser628Arg
NM_001270447.1:c.2019C>G	NP_001257376.1:p.Ser673Arg
NM_001270448.1:c.1722C>G	NP_001257377.1:p.Ser574Arg
XM_006721516.2:c.1971C>G	XP_006721579.2:p.Ser657Arg
XM_011523829.1:c.1869C>G	XP_011522131.1:p.Ser623Arg
XM_011523830.1:c.1848C>G	XP_011522132.1:p.Ser616Arg
XR_934021.1:n.2053C>G
XR_934022.1:n.1959C>G
XR_934023.1:n.1980C>G
XM_006721516.3:c.1971C>G	XP_006721579.2:p.Ser657Arg
XM_011523829.2:c.1869C>G	XP_011522131.1:p.Ser623Arg
XM_011523830.2:c.1848C>G	XP_011522132.1:p.Ser616Arg
XM_024450741.1:c.1938C>G	XP_024306509.1:p.Ser646Arg
XR_934021.2:n.2005C>G
XR_934022.2:n.1911C>G
XR_934023.2:n.1932C>G
NM_000018.4:c.1950C>G MANE Select	NP_000009.1:p.Ser650Arg
NM_001033859.3:c.1884C>G	NP_001029031.1:p.Ser628Arg
NM_001270447.2:c.2019C>G	NP_001257376.1:p.Ser673Arg
NM_001270448.2:c.1722C>G	NP_001257377.1:p.Ser574Arg