Canonical Allele Identifier: CA397726185

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 991128
• ClinVar RCV Id: RCV001279288
• dbSNP Id: rs2071413884
• MyVariant Identifiers: chr17:g.7128370T>C (hg19) ; chr17:g.7225051T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225051T>C , CM000679.2:g.7225051T>C	GRCh38
NC_000017.10:g.7128370T>C , CM000679.1:g.7128370T>C	GRCh37
NC_000017.9:g.7069094T>C	NCBI36
NG_007975.1:g.10218T>C
NG_033038.1:g.14494A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1922T>C MANE Select	ENSP00000349297.5:p.Leu641Ser
ENST00000322910.9:c.*1877T>C	ENSP00000325395.5:n.*1877T>C
ENST00000350303.9:c.1856T>C	ENSP00000344152.5:p.Leu619Ser
ENST00000356839.9:c.1922T>C	ENSP00000349297.5:p.Leu641Ser
ENST00000542255.6:c.801T>C
ENST00000543245.6:c.1991T>C	ENSP00000438689.2:p.Leu664Ser
ENST00000578033.1:n.347T>C
ENST00000578319.5:n.503T>C
ENST00000578711.1:n.1547T>C
ENST00000578809.5:n.494T>C
ENST00000579425.5:n.1038T>C
ENST00000583848.5:c.288T>C	ENSP00000466487.1:n.288T>C
ENST00000583850.5:n.693T>C
ENST00000583858.5:c.853T>C
NM_000018.3:c.1922T>C	NP_000009.1:p.Leu641Ser
NM_001033859.2:c.1856T>C	NP_001029031.1:p.Leu619Ser
NM_001270447.1:c.1991T>C	NP_001257376.1:p.Leu664Ser
NM_001270448.1:c.1694T>C	NP_001257377.1:p.Leu565Ser
XM_006721516.2:c.1943T>C	XP_006721579.2:p.Leu648Ser
XM_011523829.1:c.1841T>C	XP_011522131.1:p.Leu614Ser
XM_011523830.1:c.1820T>C	XP_011522132.1:p.Leu607Ser
XR_934021.1:n.2025T>C
XR_934022.1:n.1931T>C
XR_934023.1:n.1952T>C
XM_006721516.3:c.1943T>C	XP_006721579.2:p.Leu648Ser
XM_011523829.2:c.1841T>C	XP_011522131.1:p.Leu614Ser
XM_011523830.2:c.1820T>C	XP_011522132.1:p.Leu607Ser
XM_024450741.1:c.1910T>C	XP_024306509.1:p.Leu637Ser
XR_934021.2:n.1977T>C
XR_934022.2:n.1883T>C
XR_934023.2:n.1904T>C
NM_000018.4:c.1922T>C MANE Select	NP_000009.1:p.Leu641Ser
NM_001033859.3:c.1856T>C	NP_001029031.1:p.Leu619Ser
NM_001270447.2:c.1991T>C	NP_001257376.1:p.Leu664Ser
NM_001270448.2:c.1694T>C	NP_001257377.1:p.Leu565Ser