Canonical Allele Identifier: CA397726032

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128301T>A (hg19) ; chr17:g.7224982T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224982T>A , CM000679.2:g.7224982T>A	GRCh38
NC_000017.10:g.7128301T>A , CM000679.1:g.7128301T>A	GRCh37
NC_000017.9:g.7069025T>A	NCBI36
NG_007975.1:g.10149T>A
NG_008391.2:g.69A>T
NG_033038.1:g.14563A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1853T>A MANE Select	ENSP00000349297.5:p.Met618Lys
ENST00000322910.9:c.*1808T>A	ENSP00000325395.5:n.*1808T>A
ENST00000350303.9:c.1787T>A	ENSP00000344152.5:p.Met596Lys
ENST00000356839.9:c.1853T>A	ENSP00000349297.5:p.Met618Lys
ENST00000542255.6:c.732T>A
ENST00000543245.6:c.1922T>A	ENSP00000438689.2:p.Met641Lys
ENST00000578033.1:n.278T>A
ENST00000578319.5:n.434T>A
ENST00000578711.1:n.1478T>A
ENST00000578809.5:n.425T>A
ENST00000579425.5:n.969T>A
ENST00000583848.5:c.219T>A	ENSP00000466487.1:n.219T>A
ENST00000583850.5:n.624T>A
ENST00000583858.5:c.784T>A
NM_000018.3:c.1853T>A	NP_000009.1:p.Met618Lys
NM_001033859.2:c.1787T>A	NP_001029031.1:p.Met596Lys
NM_001270447.1:c.1922T>A	NP_001257376.1:p.Met641Lys
NM_001270448.1:c.1625T>A	NP_001257377.1:p.Met542Lys
XM_006721516.2:c.1874T>A	XP_006721579.2:p.Met625Lys
XM_011523829.1:c.1772T>A	XP_011522131.1:p.Met591Lys
XM_011523830.1:c.1751T>A	XP_011522132.1:p.Met584Lys
XR_934021.1:n.1956T>A
XR_934022.1:n.1862T>A
XR_934023.1:n.1883T>A
XM_006721516.3:c.1874T>A	XP_006721579.2:p.Met625Lys
XM_011523829.2:c.1772T>A	XP_011522131.1:p.Met591Lys
XM_011523830.2:c.1751T>A	XP_011522132.1:p.Met584Lys
XM_024450741.1:c.1841T>A	XP_024306509.1:p.Met614Lys
XR_934021.2:n.1908T>A
XR_934022.2:n.1814T>A
XR_934023.2:n.1835T>A
NM_000018.4:c.1853T>A MANE Select	NP_000009.1:p.Met618Lys
NM_001033859.3:c.1787T>A	NP_001029031.1:p.Met596Lys
NM_001270447.2:c.1922T>A	NP_001257376.1:p.Met641Lys
NM_001270448.2:c.1625T>A	NP_001257377.1:p.Met542Lys