Canonical Allele Identifier: CA397726183

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128369T>G (hg19) ; chr17:g.7225050T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1921T>G MANE Select	ENSP00000349297.5:p.Leu641Val
ENST00000322910.9:c.*1876T>G	ENSP00000325395.5:n.*1876T>G
ENST00000350303.9:c.1855T>G	ENSP00000344152.5:p.Leu619Val
ENST00000356839.9:c.1921T>G	ENSP00000349297.5:p.Leu641Val
ENST00000542255.6:c.800T>G
ENST00000543245.6:c.1990T>G	ENSP00000438689.2:p.Leu664Val
ENST00000578033.1:n.346T>G
ENST00000578319.5:n.502T>G
ENST00000578711.1:n.1546T>G
ENST00000578809.5:n.493T>G
ENST00000579425.5:n.1037T>G
ENST00000583848.5:c.287T>G	ENSP00000466487.1:n.287T>G
ENST00000583850.5:n.692T>G
ENST00000583858.5:c.852T>G
NM_000018.3:c.1921T>G	NP_000009.1:p.Leu641Val
NM_001033859.2:c.1855T>G	NP_001029031.1:p.Leu619Val
NM_001270447.1:c.1990T>G	NP_001257376.1:p.Leu664Val
NM_001270448.1:c.1693T>G	NP_001257377.1:p.Leu565Val
XM_006721516.2:c.1942T>G	XP_006721579.2:p.Leu648Val
XM_011523829.1:c.1840T>G	XP_011522131.1:p.Leu614Val
XM_011523830.1:c.1819T>G	XP_011522132.1:p.Leu607Val
XR_934021.1:n.2024T>G
XR_934022.1:n.1930T>G
XR_934023.1:n.1951T>G
XM_006721516.3:c.1942T>G	XP_006721579.2:p.Leu648Val
XM_011523829.2:c.1840T>G	XP_011522131.1:p.Leu614Val
XM_011523830.2:c.1819T>G	XP_011522132.1:p.Leu607Val
XM_024450741.1:c.1909T>G	XP_024306509.1:p.Leu637Val
XR_934021.2:n.1976T>G
XR_934022.2:n.1882T>G
XR_934023.2:n.1903T>G
NM_000018.4:c.1921T>G MANE Select	NP_000009.1:p.Leu641Val
NM_001033859.3:c.1855T>G	NP_001029031.1:p.Leu619Val
NM_001270447.2:c.1990T>G	NP_001257376.1:p.Leu664Val
NM_001270448.2:c.1693T>G	NP_001257377.1:p.Leu565Val