Canonical Allele Identifier: CA397726059

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224994-A-T
• MyVariant Identifiers: chr17:g.7128313A>T (hg19) ; chr17:g.7224994A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224994A>T , CM000679.2:g.7224994A>T	GRCh38
NC_000017.10:g.7128313A>T , CM000679.1:g.7128313A>T	GRCh37
NC_000017.9:g.7069037A>T	NCBI36
NG_007975.1:g.10161A>T
NG_008391.2:g.57T>A
NG_033038.1:g.14551T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1865A>T MANE Select	ENSP00000349297.5:p.Gln622Leu
ENST00000322910.9:c.*1820A>T	ENSP00000325395.5:n.*1820A>T
ENST00000350303.9:c.1799A>T	ENSP00000344152.5:p.Gln600Leu
ENST00000356839.9:c.1865A>T	ENSP00000349297.5:p.Gln622Leu
ENST00000542255.6:c.744A>T
ENST00000543245.6:c.1934A>T	ENSP00000438689.2:p.Gln645Leu
ENST00000578033.1:n.290A>T
ENST00000578319.5:n.446A>T
ENST00000578711.1:n.1490A>T
ENST00000578809.5:n.437A>T
ENST00000579425.5:n.981A>T
ENST00000583848.5:c.231A>T	ENSP00000466487.1:n.231A>T
ENST00000583850.5:n.636A>T
ENST00000583858.5:c.796A>T
NM_000018.3:c.1865A>T	NP_000009.1:p.Gln622Leu
NM_001033859.2:c.1799A>T	NP_001029031.1:p.Gln600Leu
NM_001270447.1:c.1934A>T	NP_001257376.1:p.Gln645Leu
NM_001270448.1:c.1637A>T	NP_001257377.1:p.Gln546Leu
XM_006721516.2:c.1886A>T	XP_006721579.2:p.Gln629Leu
XM_011523829.1:c.1784A>T	XP_011522131.1:p.Gln595Leu
XM_011523830.1:c.1763A>T	XP_011522132.1:p.Gln588Leu
XR_934021.1:n.1968A>T
XR_934022.1:n.1874A>T
XR_934023.1:n.1895A>T
XM_006721516.3:c.1886A>T	XP_006721579.2:p.Gln629Leu
XM_011523829.2:c.1784A>T	XP_011522131.1:p.Gln595Leu
XM_011523830.2:c.1763A>T	XP_011522132.1:p.Gln588Leu
XM_024450741.1:c.1853A>T	XP_024306509.1:p.Gln618Leu
XR_934021.2:n.1920A>T
XR_934022.2:n.1826A>T
XR_934023.2:n.1847A>T
NM_000018.4:c.1865A>T MANE Select	NP_000009.1:p.Gln622Leu
NM_001033859.3:c.1799A>T	NP_001029031.1:p.Gln600Leu
NM_001270447.2:c.1934A>T	NP_001257376.1:p.Gln645Leu
NM_001270448.2:c.1637A>T	NP_001257377.1:p.Gln546Leu