Canonical Allele Identifier: CA8338305

Gene: ACADVL

Linked Data

• dbSNP Id: rs750245201
• ExAC: 17:7128324 T / A
• gnomAD v2: 17-7128324-T-A
• MyVariant Identifiers: chr17:g.7128324T>A (hg19) ; chr17:g.7225005T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225005T>A , CM000679.2:g.7225005T>A	GRCh38
NC_000017.10:g.7128324T>A , CM000679.1:g.7128324T>A	GRCh37
NC_000017.9:g.7069048T>A	NCBI36
NG_007975.1:g.10172T>A
NG_008391.2:g.46A>T
NG_033038.1:g.14540A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1876T>A MANE Select	ENSP00000349297.5:p.Trp626Arg
ENST00000322910.9:c.*1831T>A	ENSP00000325395.5:n.*1831T>A
ENST00000350303.9:c.1810T>A	ENSP00000344152.5:p.Trp604Arg
ENST00000356839.9:c.1876T>A	ENSP00000349297.5:p.Trp626Arg
ENST00000542255.6:c.755T>A
ENST00000543245.6:c.1945T>A	ENSP00000438689.2:p.Trp649Arg
ENST00000578033.1:n.301T>A
ENST00000578319.5:n.457T>A
ENST00000578711.1:n.1501T>A
ENST00000578809.5:n.448T>A
ENST00000579425.5:n.992T>A
ENST00000583848.5:c.242T>A	ENSP00000466487.1:n.242T>A
ENST00000583850.5:n.647T>A
ENST00000583858.5:c.807T>A
NM_000018.3:c.1876T>A	NP_000009.1:p.Trp626Arg
NM_001033859.2:c.1810T>A	NP_001029031.1:p.Trp604Arg
NM_001270447.1:c.1945T>A	NP_001257376.1:p.Trp649Arg
NM_001270448.1:c.1648T>A	NP_001257377.1:p.Trp550Arg
XM_006721516.2:c.1897T>A	XP_006721579.2:p.Trp633Arg
XM_011523829.1:c.1795T>A	XP_011522131.1:p.Trp599Arg
XM_011523830.1:c.1774T>A	XP_011522132.1:p.Trp592Arg
XR_934021.1:n.1979T>A
XR_934022.1:n.1885T>A
XR_934023.1:n.1906T>A
XM_006721516.3:c.1897T>A	XP_006721579.2:p.Trp633Arg
XM_011523829.2:c.1795T>A	XP_011522131.1:p.Trp599Arg
XM_011523830.2:c.1774T>A	XP_011522132.1:p.Trp592Arg
XM_024450741.1:c.1864T>A	XP_024306509.1:p.Trp622Arg
XR_934021.2:n.1931T>A
XR_934022.2:n.1837T>A
XR_934023.2:n.1858T>A
NM_000018.4:c.1876T>A MANE Select	NP_000009.1:p.Trp626Arg
NM_001033859.3:c.1810T>A	NP_001029031.1:p.Trp604Arg
NM_001270447.2:c.1945T>A	NP_001257376.1:p.Trp649Arg
NM_001270448.2:c.1648T>A	NP_001257377.1:p.Trp550Arg