Canonical Allele Identifier: CA287441461

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2174501
• ClinVar RCV Id: RCV002587929
• dbSNP Id: rs1024901354
• gnomAD v2: 17-7128378-C-T
• gnomAD v3: 17-7225059-C-T
• gnomAD v4: 17-7225059-C-T
• MyVariant Identifiers: chr17:g.7128378C>T (hg19) ; chr17:g.7225059C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225059C>T , CM000679.2:g.7225059C>T	GRCh38
NC_000017.10:g.7128378C>T , CM000679.1:g.7128378C>T	GRCh37
NC_000017.9:g.7069102C>T	NCBI36
NG_007975.1:g.10226C>T
NG_033038.1:g.14486G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1930C>T MANE Select	ENSP00000349297.5:p.Arg644Trp
ENST00000322910.9:c.*1885C>T	ENSP00000325395.5:n.*1885C>T
ENST00000350303.9:c.1864C>T	ENSP00000344152.5:p.Arg622Trp
ENST00000356839.9:c.1930C>T	ENSP00000349297.5:p.Arg644Trp
ENST00000542255.6:c.809C>T
ENST00000543245.6:c.1999C>T	ENSP00000438689.2:p.Arg667Trp
ENST00000578033.1:n.355C>T
ENST00000578319.5:n.511C>T
ENST00000578711.1:n.1555C>T
ENST00000578809.5:n.502C>T
ENST00000579425.5:n.1046C>T
ENST00000583848.5:c.296C>T	ENSP00000466487.1:n.296C>T
ENST00000583850.5:n.701C>T
ENST00000583858.5:c.861C>T
NM_000018.3:c.1930C>T	NP_000009.1:p.Arg644Trp
NM_001033859.2:c.1864C>T	NP_001029031.1:p.Arg622Trp
NM_001270447.1:c.1999C>T	NP_001257376.1:p.Arg667Trp
NM_001270448.1:c.1702C>T	NP_001257377.1:p.Arg568Trp
XM_006721516.2:c.1951C>T	XP_006721579.2:p.Arg651Trp
XM_011523829.1:c.1849C>T	XP_011522131.1:p.Arg617Trp
XM_011523830.1:c.1828C>T	XP_011522132.1:p.Arg610Trp
XR_934021.1:n.2033C>T
XR_934022.1:n.1939C>T
XR_934023.1:n.1960C>T
XM_006721516.3:c.1951C>T	XP_006721579.2:p.Arg651Trp
XM_011523829.2:c.1849C>T	XP_011522131.1:p.Arg617Trp
XM_011523830.2:c.1828C>T	XP_011522132.1:p.Arg610Trp
XM_024450741.1:c.1918C>T	XP_024306509.1:p.Arg640Trp
XR_934021.2:n.1985C>T
XR_934022.2:n.1891C>T
XR_934023.2:n.1912C>T
NM_000018.4:c.1930C>T MANE Select	NP_000009.1:p.Arg644Trp
NM_001033859.3:c.1864C>T	NP_001029031.1:p.Arg622Trp
NM_001270447.2:c.1999C>T	NP_001257376.1:p.Arg667Trp
NM_001270448.2:c.1702C>T	NP_001257377.1:p.Arg568Trp