Canonical Allele Identifier: CA397725945

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128189A>T (hg19) ; chr17:g.7224870A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224870A>T , CM000679.2:g.7224870A>T	GRCh38
NC_000017.10:g.7128189A>T , CM000679.1:g.7128189A>T	GRCh37
NC_000017.9:g.7068913A>T	NCBI36
NG_007975.1:g.10037A>T
NG_008391.2:g.181T>A
NG_033038.1:g.14675T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1813A>T MANE Select	ENSP00000349297.5:p.Thr605Ser
ENST00000322910.9:c.*1768A>T	ENSP00000325395.5:n.*1768A>T
ENST00000350303.9:c.1747A>T	ENSP00000344152.5:p.Thr583Ser
ENST00000356839.9:c.1813A>T	ENSP00000349297.5:p.Thr605Ser
ENST00000542255.6:c.692A>T
ENST00000543245.6:c.1882A>T	ENSP00000438689.2:p.Thr628Ser
ENST00000578033.1:n.238A>T
ENST00000578319.5:n.394A>T
ENST00000578711.1:n.1366A>T
ENST00000578809.5:n.385A>T
ENST00000579425.5:n.929A>T
ENST00000579546.1:c.548A>T
ENST00000583848.5:c.179A>T	ENSP00000466487.1:n.179A>T
ENST00000583850.5:n.584A>T
ENST00000583858.5:c.744A>T
NM_000018.3:c.1813A>T	NP_000009.1:p.Thr605Ser
NM_001033859.2:c.1747A>T	NP_001029031.1:p.Thr583Ser
NM_001270447.1:c.1882A>T	NP_001257376.1:p.Thr628Ser
NM_001270448.1:c.1585A>T	NP_001257377.1:p.Thr529Ser
XM_006721516.2:c.1834A>T	XP_006721579.2:p.Thr612Ser
XM_011523829.1:c.1732A>T	XP_011522131.1:p.Thr578Ser
XM_011523830.1:c.1711A>T	XP_011522132.1:p.Thr571Ser
XR_934021.1:n.1916A>T
XR_934022.1:n.1822A>T
XR_934023.1:n.1843A>T
XM_006721516.3:c.1834A>T	XP_006721579.2:p.Thr612Ser
XM_011523829.2:c.1732A>T	XP_011522131.1:p.Thr578Ser
XM_011523830.2:c.1711A>T	XP_011522132.1:p.Thr571Ser
XM_024450741.1:c.1801A>T	XP_024306509.1:p.Thr601Ser
XR_934021.2:n.1868A>T
XR_934022.2:n.1774A>T
XR_934023.2:n.1795A>T
NM_000018.4:c.1813A>T MANE Select	NP_000009.1:p.Thr605Ser
NM_001033859.3:c.1747A>T	NP_001029031.1:p.Thr583Ser
NM_001270447.2:c.1882A>T	NP_001257376.1:p.Thr628Ser
NM_001270448.2:c.1585A>T	NP_001257377.1:p.Thr529Ser