Canonical Allele Identifier: CA397725491

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127805C>G (hg19) ; chr17:g.7224486C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224486C>G , CM000679.2:g.7224486C>G	GRCh38
NC_000017.10:g.7127805C>G , CM000679.1:g.7127805C>G	GRCh37
NC_000017.9:g.7068529C>G	NCBI36
NG_007975.1:g.9653C>G
NG_008391.2:g.565G>C
NG_033038.1:g.15059G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1612C>G MANE Select	ENSP00000349297.5:p.Arg538Gly
ENST00000322910.9:c.*1567C>G	ENSP00000325395.5:n.*1567C>G
ENST00000350303.9:c.1546C>G	ENSP00000344152.5:p.Arg516Gly
ENST00000356839.9:c.1612C>G	ENSP00000349297.5:p.Arg538Gly
ENST00000542255.6:c.470C>G
ENST00000543245.6:c.1681C>G	ENSP00000438689.2:p.Arg561Gly
ENST00000578319.5:n.193C>G
ENST00000578711.1:n.982C>G
ENST00000578809.5:n.184C>G
ENST00000579391.1:n.216C>G
ENST00000579425.5:n.728C>G
ENST00000579546.1:c.347C>G
ENST00000579894.5:n.399C>G
ENST00000582450.1:n.120C>G
ENST00000583074.5:n.233C>G
ENST00000583850.5:n.383C>G
ENST00000583858.5:c.543C>G
ENST00000585203.6:n.803C>G
NM_000018.3:c.1612C>G	NP_000009.1:p.Arg538Gly
NM_001033859.2:c.1546C>G	NP_001029031.1:p.Arg516Gly
NM_001270447.1:c.1681C>G	NP_001257376.1:p.Arg561Gly
NM_001270448.1:c.1384C>G	NP_001257377.1:p.Arg462Gly
XM_006721516.2:c.1612C>G	XP_006721579.2:p.Arg538Gly
XM_011523829.1:c.1510C>G	XP_011522131.1:p.Arg504Gly
XM_011523830.1:c.1510C>G	XP_011522132.1:p.Arg504Gly
XR_934021.1:n.1715C>G
XR_934022.1:n.1621C>G
XR_934023.1:n.1621C>G
XM_006721516.3:c.1612C>G	XP_006721579.2:p.Arg538Gly
XM_011523829.2:c.1510C>G	XP_011522131.1:p.Arg504Gly
XM_011523830.2:c.1510C>G	XP_011522132.1:p.Arg504Gly
XM_024450741.1:c.1600C>G	XP_024306509.1:p.Arg534Gly
XR_934021.2:n.1667C>G
XR_934022.2:n.1573C>G
XR_934023.2:n.1573C>G
NM_000018.4:c.1612C>G MANE Select	NP_000009.1:p.Arg538Gly
NM_001033859.3:c.1546C>G	NP_001029031.1:p.Arg516Gly
NM_001270447.2:c.1681C>G	NP_001257376.1:p.Arg561Gly
NM_001270448.2:c.1384C>G	NP_001257377.1:p.Arg462Gly