Canonical Allele Identifier: CA397726204

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932783
• ClinVar RCV Id: RCV001200724
• dbSNP Id: rs774762384
• MyVariant Identifiers: chr17:g.7128379G>C (hg19) ; chr17:g.7225060G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225060G>C , CM000679.2:g.7225060G>C	GRCh38
NC_000017.10:g.7128379G>C , CM000679.1:g.7128379G>C	GRCh37
NC_000017.9:g.7069103G>C	NCBI36
NG_007975.1:g.10227G>C
NG_033038.1:g.14485C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1931G>C MANE Select	ENSP00000349297.5:p.Arg644Pro
ENST00000322910.9:c.*1886G>C	ENSP00000325395.5:n.*1886G>C
ENST00000350303.9:c.1865G>C	ENSP00000344152.5:p.Arg622Pro
ENST00000356839.9:c.1931G>C	ENSP00000349297.5:p.Arg644Pro
ENST00000542255.6:c.810G>C
ENST00000543245.6:c.2000G>C	ENSP00000438689.2:p.Arg667Pro
ENST00000578033.1:n.356G>C
ENST00000578319.5:n.512G>C
ENST00000578711.1:n.1556G>C
ENST00000578809.5:n.503G>C
ENST00000579425.5:n.1047G>C
ENST00000583848.5:c.297G>C	ENSP00000466487.1:n.297G>C
ENST00000583850.5:n.702G>C
ENST00000583858.5:c.862G>C
NM_000018.3:c.1931G>C	NP_000009.1:p.Arg644Pro
NM_001033859.2:c.1865G>C	NP_001029031.1:p.Arg622Pro
NM_001270447.1:c.2000G>C	NP_001257376.1:p.Arg667Pro
NM_001270448.1:c.1703G>C	NP_001257377.1:p.Arg568Pro
XM_006721516.2:c.1952G>C	XP_006721579.2:p.Arg651Pro
XM_011523829.1:c.1850G>C	XP_011522131.1:p.Arg617Pro
XM_011523830.1:c.1829G>C	XP_011522132.1:p.Arg610Pro
XR_934021.1:n.2034G>C
XR_934022.1:n.1940G>C
XR_934023.1:n.1961G>C
XM_006721516.3:c.1952G>C	XP_006721579.2:p.Arg651Pro
XM_011523829.2:c.1850G>C	XP_011522131.1:p.Arg617Pro
XM_011523830.2:c.1829G>C	XP_011522132.1:p.Arg610Pro
XM_024450741.1:c.1919G>C	XP_024306509.1:p.Arg640Pro
XR_934021.2:n.1986G>C
XR_934022.2:n.1892G>C
XR_934023.2:n.1913G>C
NM_000018.4:c.1931G>C MANE Select	NP_000009.1:p.Arg644Pro
NM_001033859.3:c.1865G>C	NP_001029031.1:p.Arg622Pro
NM_001270447.2:c.2000G>C	NP_001257376.1:p.Arg667Pro
NM_001270448.2:c.1703G>C	NP_001257377.1:p.Arg568Pro