Canonical Allele Identifier: CA397726170

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128363A>T (hg19) ; chr17:g.7225044A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225044A>T , CM000679.2:g.7225044A>T	GRCh38
NC_000017.10:g.7128363A>T , CM000679.1:g.7128363A>T	GRCh37
NC_000017.9:g.7069087A>T	NCBI36
NG_007975.1:g.10211A>T
NG_008391.2:g.7T>A
NG_033038.1:g.14501T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1915A>T MANE Select	ENSP00000349297.5:p.Lys639Ter
ENST00000322910.9:c.*1870A>T	ENSP00000325395.5:n.*1870A>T
ENST00000350303.9:c.1849A>T	ENSP00000344152.5:p.Lys617Ter
ENST00000356839.9:c.1915A>T	ENSP00000349297.5:p.Lys639Ter
ENST00000542255.6:c.794A>T
ENST00000543245.6:c.1984A>T	ENSP00000438689.2:p.Lys662Ter
ENST00000578033.1:n.340A>T
ENST00000578319.5:n.496A>T
ENST00000578711.1:n.1540A>T
ENST00000578809.5:n.487A>T
ENST00000579425.5:n.1031A>T
ENST00000583848.5:c.281A>T	ENSP00000466487.1:n.281A>T
ENST00000583850.5:n.686A>T
ENST00000583858.5:c.846A>T
NM_000018.3:c.1915A>T	NP_000009.1:p.Lys639Ter
NM_001033859.2:c.1849A>T	NP_001029031.1:p.Lys617Ter
NM_001270447.1:c.1984A>T	NP_001257376.1:p.Lys662Ter
NM_001270448.1:c.1687A>T	NP_001257377.1:p.Lys563Ter
XM_006721516.2:c.1936A>T	XP_006721579.2:p.Lys646Ter
XM_011523829.1:c.1834A>T	XP_011522131.1:p.Lys612Ter
XM_011523830.1:c.1813A>T	XP_011522132.1:p.Lys605Ter
XR_934021.1:n.2018A>T
XR_934022.1:n.1924A>T
XR_934023.1:n.1945A>T
XM_006721516.3:c.1936A>T	XP_006721579.2:p.Lys646Ter
XM_011523829.2:c.1834A>T	XP_011522131.1:p.Lys612Ter
XM_011523830.2:c.1813A>T	XP_011522132.1:p.Lys605Ter
XM_024450741.1:c.1903A>T	XP_024306509.1:p.Lys635Ter
XR_934021.2:n.1970A>T
XR_934022.2:n.1876A>T
XR_934023.2:n.1897A>T
NM_000018.4:c.1915A>T MANE Select	NP_000009.1:p.Lys639Ter
NM_001033859.3:c.1849A>T	NP_001029031.1:p.Lys617Ter
NM_001270447.2:c.1984A>T	NP_001257376.1:p.Lys662Ter
NM_001270448.2:c.1687A>T	NP_001257377.1:p.Lys563Ter