Canonical Allele Identifier: CA397725041

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127356C>G (hg19) ; chr17:g.7224037C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224037C>G , CM000679.2:g.7224037C>G	GRCh38
NC_000017.10:g.7127356C>G , CM000679.1:g.7127356C>G	GRCh37
NC_000017.9:g.7068080C>G	NCBI36
NG_007975.1:g.9204C>G
NG_008391.2:g.1014G>C
NG_033038.1:g.15508G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1402C>G MANE Select	ENSP00000349297.5:p.Leu468Val
ENST00000322910.9:c.*1357C>G	ENSP00000325395.5:n.*1357C>G
ENST00000350303.9:c.1336C>G	ENSP00000344152.5:p.Leu446Val
ENST00000356839.9:c.1402C>G	ENSP00000349297.5:p.Leu468Val
ENST00000542255.6:c.260C>G
ENST00000543245.6:c.1471C>G	ENSP00000438689.2:p.Leu491Val
ENST00000578711.1:n.533C>G
ENST00000579425.5:n.518C>G
ENST00000579546.1:c.239C>G
ENST00000579894.5:n.113C>G
ENST00000583074.5:n.121C>G
ENST00000583850.5:n.177C>G
ENST00000583858.5:c.431C>G
ENST00000585203.6:n.593C>G
NM_000018.3:c.1402C>G	NP_000009.1:p.Leu468Val
NM_001033859.2:c.1336C>G	NP_001029031.1:p.Leu446Val
NM_001270447.1:c.1471C>G	NP_001257376.1:p.Leu491Val
NM_001270448.1:c.1174C>G	NP_001257377.1:p.Leu392Val
XM_006721516.2:c.1402C>G	XP_006721579.2:p.Leu468Val
XM_011523829.1:c.1402C>G	XP_011522131.1:p.Leu468Val
XM_011523830.1:c.1402C>G	XP_011522132.1:p.Leu468Val
XR_934021.1:n.1509C>G
XR_934022.1:n.1509C>G
XR_934023.1:n.1509C>G
XM_006721516.3:c.1402C>G	XP_006721579.2:p.Leu468Val
XM_011523829.2:c.1402C>G	XP_011522131.1:p.Leu468Val
XM_011523830.2:c.1402C>G	XP_011522132.1:p.Leu468Val
XM_024450741.1:c.1402C>G	XP_024306509.1:p.Leu468Val
XR_934021.2:n.1461C>G
XR_934022.2:n.1461C>G
XR_934023.2:n.1461C>G
NM_000018.4:c.1402C>G MANE Select	NP_000009.1:p.Leu468Val
NM_001033859.3:c.1336C>G	NP_001029031.1:p.Leu446Val
NM_001270447.2:c.1471C>G	NP_001257376.1:p.Leu491Val
NM_001270448.2:c.1174C>G	NP_001257377.1:p.Leu392Val