Canonical Allele Identifier: CA397726182

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071413799
• MyVariant Identifiers: chr17:g.7128369T>A (hg19) ; chr17:g.7225050T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225050T>A , CM000679.2:g.7225050T>A	GRCh38
NC_000017.10:g.7128369T>A , CM000679.1:g.7128369T>A	GRCh37
NC_000017.9:g.7069093T>A	NCBI36
NG_007975.1:g.10217T>A
NG_008391.2:g.1A>T
NG_033038.1:g.14495A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1921T>A MANE Select	ENSP00000349297.5:p.Leu641Met
ENST00000322910.9:c.*1876T>A	ENSP00000325395.5:n.*1876T>A
ENST00000350303.9:c.1855T>A	ENSP00000344152.5:p.Leu619Met
ENST00000356839.9:c.1921T>A	ENSP00000349297.5:p.Leu641Met
ENST00000542255.6:c.800T>A
ENST00000543245.6:c.1990T>A	ENSP00000438689.2:p.Leu664Met
ENST00000578033.1:n.346T>A
ENST00000578319.5:n.502T>A
ENST00000578711.1:n.1546T>A
ENST00000578809.5:n.493T>A
ENST00000579425.5:n.1037T>A
ENST00000583848.5:c.287T>A	ENSP00000466487.1:n.287T>A
ENST00000583850.5:n.692T>A
ENST00000583858.5:c.852T>A
NM_000018.3:c.1921T>A	NP_000009.1:p.Leu641Met
NM_001033859.2:c.1855T>A	NP_001029031.1:p.Leu619Met
NM_001270447.1:c.1990T>A	NP_001257376.1:p.Leu664Met
NM_001270448.1:c.1693T>A	NP_001257377.1:p.Leu565Met
XM_006721516.2:c.1942T>A	XP_006721579.2:p.Leu648Met
XM_011523829.1:c.1840T>A	XP_011522131.1:p.Leu614Met
XM_011523830.1:c.1819T>A	XP_011522132.1:p.Leu607Met
XR_934021.1:n.2024T>A
XR_934022.1:n.1930T>A
XR_934023.1:n.1951T>A
XM_006721516.3:c.1942T>A	XP_006721579.2:p.Leu648Met
XM_011523829.2:c.1840T>A	XP_011522131.1:p.Leu614Met
XM_011523830.2:c.1819T>A	XP_011522132.1:p.Leu607Met
XM_024450741.1:c.1909T>A	XP_024306509.1:p.Leu637Met
XR_934021.2:n.1976T>A
XR_934022.2:n.1882T>A
XR_934023.2:n.1903T>A
NM_000018.4:c.1921T>A MANE Select	NP_000009.1:p.Leu641Met
NM_001033859.3:c.1855T>A	NP_001029031.1:p.Leu619Met
NM_001270447.2:c.1990T>A	NP_001257376.1:p.Leu664Met
NM_001270448.2:c.1693T>A	NP_001257377.1:p.Leu565Met