Canonical Allele Identifier: CA8338190

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932825
• ClinVar RCV Id: RCV001200777 ; RCV001559434
• dbSNP Id: rs192904909
• ExAC: 17:7127805 C / T
• gnomAD v2: 17-7127805-C-T
• gnomAD v3: 17-7224486-C-T
• gnomAD v4: 17-7224486-C-T
• MyVariant Identifiers: chr17:g.7127805C>T (hg19) ; chr17:g.7224486C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1612C>T MANE Select	ENSP00000349297.5:p.Arg538Trp
ENST00000322910.9:c.*1567C>T	ENSP00000325395.5:n.*1567C>T
ENST00000350303.9:c.1546C>T	ENSP00000344152.5:p.Arg516Trp
ENST00000356839.9:c.1612C>T	ENSP00000349297.5:p.Arg538Trp
ENST00000542255.6:c.470C>T
ENST00000543245.6:c.1681C>T	ENSP00000438689.2:p.Arg561Trp
ENST00000578319.5:n.193C>T
ENST00000578711.1:n.982C>T
ENST00000578809.5:n.184C>T
ENST00000579391.1:n.216C>T
ENST00000579425.5:n.728C>T
ENST00000579546.1:c.347C>T
ENST00000579894.5:n.399C>T
ENST00000582450.1:n.120C>T
ENST00000583074.5:n.233C>T
ENST00000583850.5:n.383C>T
ENST00000583858.5:c.543C>T
ENST00000585203.6:n.803C>T
NM_000018.3:c.1612C>T	NP_000009.1:p.Arg538Trp
NM_001033859.2:c.1546C>T	NP_001029031.1:p.Arg516Trp
NM_001270447.1:c.1681C>T	NP_001257376.1:p.Arg561Trp
NM_001270448.1:c.1384C>T	NP_001257377.1:p.Arg462Trp
XM_006721516.2:c.1612C>T	XP_006721579.2:p.Arg538Trp
XM_011523829.1:c.1510C>T	XP_011522131.1:p.Arg504Trp
XM_011523830.1:c.1510C>T	XP_011522132.1:p.Arg504Trp
XR_934021.1:n.1715C>T
XR_934022.1:n.1621C>T
XR_934023.1:n.1621C>T
XM_006721516.3:c.1612C>T	XP_006721579.2:p.Arg538Trp
XM_011523829.2:c.1510C>T	XP_011522131.1:p.Arg504Trp
XM_011523830.2:c.1510C>T	XP_011522132.1:p.Arg504Trp
XM_024450741.1:c.1600C>T	XP_024306509.1:p.Arg534Trp
XR_934021.2:n.1667C>T
XR_934022.2:n.1573C>T
XR_934023.2:n.1573C>T
NM_000018.4:c.1612C>T MANE Select	NP_000009.1:p.Arg538Trp
NM_001033859.3:c.1546C>T	NP_001029031.1:p.Arg516Trp
NM_001270447.2:c.1681C>T	NP_001257376.1:p.Arg561Trp
NM_001270448.2:c.1384C>T	NP_001257377.1:p.Arg462Trp