Canonical Allele Identifier: CA497694600

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071415265
• gnomAD v3: 17-7225076-C-T
• gnomAD v4: 17-7225076-C-T
• MyVariant Identifiers: chr17:g.7128395C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225076C>T , CM000679.2:g.7225076C>T	GRCh38
NC_000017.10:g.7128395C>T , CM000679.1:g.7128395C>T	GRCh37
NC_000017.9:g.7069119C>T	NCBI36
NG_007975.1:g.10243C>T
NG_033038.1:g.14469G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1947C>T MANE Select	ENSP00000349297.5:p.Thr649=
ENST00000322910.9:c.*1902C>T	ENSP00000325395.5:n.*1902C>T
ENST00000350303.9:c.1881C>T	ENSP00000344152.5:p.Thr627=
ENST00000356839.9:c.1947C>T	ENSP00000349297.5:p.Thr649=
ENST00000542255.6:c.826C>T
ENST00000543245.6:c.2016C>T	ENSP00000438689.2:p.Thr672=
ENST00000578033.1:n.372C>T
ENST00000578319.5:n.528C>T
ENST00000578711.1:n.1572C>T
ENST00000578809.5:n.519C>T
ENST00000579425.5:n.1063C>T
ENST00000583848.5:c.313C>T	ENSP00000466487.1:n.313C>T
ENST00000583850.5:n.718C>T
ENST00000583858.5:c.878C>T
NM_000018.3:c.1947C>T	NP_000009.1:p.Thr649=
NM_001033859.2:c.1881C>T	NP_001029031.1:p.Thr627=
NM_001270447.1:c.2016C>T	NP_001257376.1:p.Thr672=
NM_001270448.1:c.1719C>T	NP_001257377.1:p.Thr573=
XM_006721516.2:c.1968C>T	XP_006721579.2:p.Thr656=
XM_011523829.1:c.1866C>T	XP_011522131.1:p.Thr622=
XM_011523830.1:c.1845C>T	XP_011522132.1:p.Thr615=
XR_934021.1:n.2050C>T
XR_934022.1:n.1956C>T
XR_934023.1:n.1977C>T
XM_006721516.3:c.1968C>T	XP_006721579.2:p.Thr656=
XM_011523829.2:c.1866C>T	XP_011522131.1:p.Thr622=
XM_011523830.2:c.1845C>T	XP_011522132.1:p.Thr615=
XM_024450741.1:c.1935C>T	XP_024306509.1:p.Thr645=
XR_934021.2:n.2002C>T
XR_934022.2:n.1908C>T
XR_934023.2:n.1929C>T
NM_000018.4:c.1947C>T MANE Select	NP_000009.1:p.Thr649=
NM_001033859.3:c.1881C>T	NP_001029031.1:p.Thr627=
NM_001270447.2:c.2016C>T	NP_001257376.1:p.Thr672=
NM_001270448.2:c.1719C>T	NP_001257377.1:p.Thr573=