Canonical Allele Identifier: CA497694570

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2843866
• ClinVar RCV Id: RCV003602305
• MyVariant Identifiers: chr17:g.7128362C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225043C>A , CM000679.2:g.7225043C>A	GRCh38
NC_000017.10:g.7128362C>A , CM000679.1:g.7128362C>A	GRCh37
NC_000017.9:g.7069086C>A	NCBI36
NG_007975.1:g.10210C>A
NG_008391.2:g.8G>T
NG_033038.1:g.14502G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1914C>A MANE Select	ENSP00000349297.5:p.Ser638=
ENST00000322910.9:c.*1869C>A	ENSP00000325395.5:n.*1869C>A
ENST00000350303.9:c.1848C>A	ENSP00000344152.5:p.Ser616=
ENST00000356839.9:c.1914C>A	ENSP00000349297.5:p.Ser638=
ENST00000542255.6:c.793C>A
ENST00000543245.6:c.1983C>A	ENSP00000438689.2:p.Ser661=
ENST00000578033.1:n.339C>A
ENST00000578319.5:n.495C>A
ENST00000578711.1:n.1539C>A
ENST00000578809.5:n.486C>A
ENST00000579425.5:n.1030C>A
ENST00000583848.5:c.280C>A	ENSP00000466487.1:n.280C>A
ENST00000583850.5:n.685C>A
ENST00000583858.5:c.845C>A
NM_000018.3:c.1914C>A	NP_000009.1:p.Ser638=
NM_001033859.2:c.1848C>A	NP_001029031.1:p.Ser616=
NM_001270447.1:c.1983C>A	NP_001257376.1:p.Ser661=
NM_001270448.1:c.1686C>A	NP_001257377.1:p.Ser562=
XM_006721516.2:c.1935C>A	XP_006721579.2:p.Ser645=
XM_011523829.1:c.1833C>A	XP_011522131.1:p.Ser611=
XM_011523830.1:c.1812C>A	XP_011522132.1:p.Ser604=
XR_934021.1:n.2017C>A
XR_934022.1:n.1923C>A
XR_934023.1:n.1944C>A
XM_006721516.3:c.1935C>A	XP_006721579.2:p.Ser645=
XM_011523829.2:c.1833C>A	XP_011522131.1:p.Ser611=
XM_011523830.2:c.1812C>A	XP_011522132.1:p.Ser604=
XM_024450741.1:c.1902C>A	XP_024306509.1:p.Ser634=
XR_934021.2:n.1969C>A
XR_934022.2:n.1875C>A
XR_934023.2:n.1896C>A
NM_000018.4:c.1914C>A MANE Select	NP_000009.1:p.Ser638=
NM_001033859.3:c.1848C>A	NP_001029031.1:p.Ser616=
NM_001270447.2:c.1983C>A	NP_001257376.1:p.Ser661=
NM_001270448.2:c.1686C>A	NP_001257377.1:p.Ser562=