Canonical Allele Identifier: CA397726275

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932839
• ClinVar RCV Id: RCV001200793
• dbSNP Id: rs2071416769
• MyVariant Identifiers: chr17:g.7128415G>C (hg19) ; chr17:g.7225096G>C (hg38)
• ERepo: CA397726275/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225096G>C , CM000679.2:g.7225096G>C	GRCh38
NC_000017.10:g.7128415G>C , CM000679.1:g.7128415G>C	GRCh37
NC_000017.9:g.7069139G>C	NCBI36
NG_007975.1:g.10263G>C
NG_033038.1:g.14449C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1967G>C MANE Select	ENSP00000349297.5:p.Ter656Ser
ENST00000322910.9:c.*1922G>C	ENSP00000325395.5:n.*1922G>C
ENST00000350303.9:c.1901G>C	ENSP00000344152.5:p.Ter634Ser
ENST00000356839.9:c.1967G>C	ENSP00000349297.5:p.Ter656Ser
ENST00000542255.6:c.846G>C
ENST00000543245.6:c.2036G>C	ENSP00000438689.2:p.Ter679Ser
ENST00000578033.1:n.392G>C
ENST00000578319.5:n.548G>C
ENST00000578711.1:n.1592G>C
ENST00000578809.5:n.539G>C
ENST00000579425.5:n.1083G>C
ENST00000583848.5:c.333G>C	ENSP00000466487.1:n.333G>C
ENST00000583850.5:n.738G>C
ENST00000583858.5:c.898G>C
NM_000018.3:c.1967G>C	NP_000009.1:p.Ter656Ser
NM_001033859.2:c.1901G>C	NP_001029031.1:p.Ter634Ser
NM_001270447.1:c.2036G>C	NP_001257376.1:p.Ter679Ser
NM_001270448.1:c.1739G>C	NP_001257377.1:p.Ter580Ser
XM_006721516.2:c.1988G>C	XP_006721579.2:p.Ter663Ser
XM_011523829.1:c.1886G>C	XP_011522131.1:p.Ter629Ser
XM_011523830.1:c.1865G>C	XP_011522132.1:p.Ter622Ser
XR_934021.1:n.2070G>C
XR_934022.1:n.1976G>C
XR_934023.1:n.1997G>C
XM_006721516.3:c.1988G>C	XP_006721579.2:p.Ter663Ser
XM_011523829.2:c.1886G>C	XP_011522131.1:p.Ter629Ser
XM_011523830.2:c.1865G>C	XP_011522132.1:p.Ter622Ser
XM_024450741.1:c.1955G>C	XP_024306509.1:p.Ter652Ser
XR_934021.2:n.2022G>C
XR_934022.2:n.1928G>C
XR_934023.2:n.1949G>C
NM_000018.4:c.1967G>C MANE Select	NP_000009.1:p.Ter656Ser
NM_001033859.3:c.1901G>C	NP_001029031.1:p.Ter634Ser
NM_001270447.2:c.2036G>C	NP_001257376.1:p.Ter679Ser
NM_001270448.2:c.1739G>C	NP_001257377.1:p.Ter580Ser