Canonical Allele Identifier: CA397726034

Gene: ACADVL

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1853T>G MANE Select	ENSP00000349297.5:p.Met618Arg
ENST00000322910.9:c.*1808T>G	ENSP00000325395.5:n.*1808T>G
ENST00000350303.9:c.1787T>G	ENSP00000344152.5:p.Met596Arg
ENST00000356839.9:c.1853T>G	ENSP00000349297.5:p.Met618Arg
ENST00000542255.6:c.732T>G
ENST00000543245.6:c.1922T>G	ENSP00000438689.2:p.Met641Arg
ENST00000578033.1:n.278T>G
ENST00000578319.5:n.434T>G
ENST00000578711.1:n.1478T>G
ENST00000578809.5:n.425T>G
ENST00000579425.5:n.969T>G
ENST00000583848.5:c.219T>G	ENSP00000466487.1:n.219T>G
ENST00000583850.5:n.624T>G
ENST00000583858.5:c.784T>G
NM_000018.3:c.1853T>G	NP_000009.1:p.Met618Arg
NM_001033859.2:c.1787T>G	NP_001029031.1:p.Met596Arg
NM_001270447.1:c.1922T>G	NP_001257376.1:p.Met641Arg
NM_001270448.1:c.1625T>G	NP_001257377.1:p.Met542Arg
XM_006721516.2:c.1874T>G	XP_006721579.2:p.Met625Arg
XM_011523829.1:c.1772T>G	XP_011522131.1:p.Met591Arg
XM_011523830.1:c.1751T>G	XP_011522132.1:p.Met584Arg
XR_934021.1:n.1956T>G
XR_934022.1:n.1862T>G
XR_934023.1:n.1883T>G
XM_006721516.3:c.1874T>G	XP_006721579.2:p.Met625Arg
XM_011523829.2:c.1772T>G	XP_011522131.1:p.Met591Arg
XM_011523830.2:c.1751T>G	XP_011522132.1:p.Met584Arg
XM_024450741.1:c.1841T>G	XP_024306509.1:p.Met614Arg
XR_934021.2:n.1908T>G
XR_934022.2:n.1814T>G
XR_934023.2:n.1835T>G
NM_000018.4:c.1853T>G MANE Select	NP_000009.1:p.Met618Arg
NM_001033859.3:c.1787T>G	NP_001029031.1:p.Met596Arg
NM_001270447.2:c.1922T>G	NP_001257376.1:p.Met641Arg
NM_001270448.2:c.1625T>G	NP_001257377.1:p.Met542Arg