Canonical Allele Identifier: CA397726073

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128320C>A (hg19) ; chr17:g.7225001C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225001C>A , CM000679.2:g.7225001C>A	GRCh38
NC_000017.10:g.7128320C>A , CM000679.1:g.7128320C>A	GRCh37
NC_000017.9:g.7069044C>A	NCBI36
NG_007975.1:g.10168C>A
NG_008391.2:g.50G>T
NG_033038.1:g.14544G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1872C>A MANE Select	ENSP00000349297.5:p.Asp624Glu
ENST00000322910.9:c.*1827C>A	ENSP00000325395.5:n.*1827C>A
ENST00000350303.9:c.1806C>A	ENSP00000344152.5:p.Asp602Glu
ENST00000356839.9:c.1872C>A	ENSP00000349297.5:p.Asp624Glu
ENST00000542255.6:c.751C>A
ENST00000543245.6:c.1941C>A	ENSP00000438689.2:p.Asp647Glu
ENST00000578033.1:n.297C>A
ENST00000578319.5:n.453C>A
ENST00000578711.1:n.1497C>A
ENST00000578809.5:n.444C>A
ENST00000579425.5:n.988C>A
ENST00000583848.5:c.238C>A	ENSP00000466487.1:n.238C>A
ENST00000583850.5:n.643C>A
ENST00000583858.5:c.803C>A
NM_000018.3:c.1872C>A	NP_000009.1:p.Asp624Glu
NM_001033859.2:c.1806C>A	NP_001029031.1:p.Asp602Glu
NM_001270447.1:c.1941C>A	NP_001257376.1:p.Asp647Glu
NM_001270448.1:c.1644C>A	NP_001257377.1:p.Asp548Glu
XM_006721516.2:c.1893C>A	XP_006721579.2:p.Asp631Glu
XM_011523829.1:c.1791C>A	XP_011522131.1:p.Asp597Glu
XM_011523830.1:c.1770C>A	XP_011522132.1:p.Asp590Glu
XR_934021.1:n.1975C>A
XR_934022.1:n.1881C>A
XR_934023.1:n.1902C>A
XM_006721516.3:c.1893C>A	XP_006721579.2:p.Asp631Glu
XM_011523829.2:c.1791C>A	XP_011522131.1:p.Asp597Glu
XM_011523830.2:c.1770C>A	XP_011522132.1:p.Asp590Glu
XM_024450741.1:c.1860C>A	XP_024306509.1:p.Asp620Glu
XR_934021.2:n.1927C>A
XR_934022.2:n.1833C>A
XR_934023.2:n.1854C>A
NM_000018.4:c.1872C>A MANE Select	NP_000009.1:p.Asp624Glu
NM_001033859.3:c.1806C>A	NP_001029031.1:p.Asp602Glu
NM_001270447.2:c.1941C>A	NP_001257376.1:p.Asp647Glu
NM_001270448.2:c.1644C>A	NP_001257377.1:p.Asp548Glu