Canonical Allele Identifier: CA239438

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 193786
• ClinVar RCV Id: RCV000173952 ; RCV000668844 ; RCV003927590
• dbSNP Id: rs745832866
• ExAC: 17:7126527 C / T
• gnomAD v2: 17-7126527-C-T
• gnomAD v3: 17-7223208-C-T
• gnomAD v4: 17-7223208-C-T
• MyVariant Identifiers: chr17:g.7126527C>T (hg19) ; chr17:g.7223208C>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223208C>T , CM000679.2:g.7223208C>T	GRCh38
NC_000017.10:g.7126527C>T , CM000679.1:g.7126527C>T	GRCh37
NC_000017.9:g.7067251C>T	NCBI36
NG_007975.1:g.8375C>T
NG_008391.2:g.1843G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1153C>T MANE Select	ENSP00000349297.5:p.Arg385Trp
ENST00000322910.9:c.*1108C>T	ENSP00000325395.5:n.*1108C>T
ENST00000350303.9:c.1087C>T	ENSP00000344152.5:p.Arg363Trp
ENST00000356839.9:c.1153C>T	ENSP00000349297.5:p.Arg385Trp
ENST00000542255.6:c.11C>T
ENST00000543245.6:c.1222C>T	ENSP00000438689.2:p.Arg408Trp
ENST00000578579.2:n.102C>T
ENST00000578824.5:n.569C>T
ENST00000579425.5:n.177C>T
ENST00000582379.1:n.804C>T
ENST00000583858.5:c.182C>T
ENST00000585203.6:n.361C>T
NM_000018.3:c.1153C>T	NP_000009.1:p.Arg385Trp
NM_001033859.2:c.1087C>T	NP_001029031.1:p.Arg363Trp
NM_001270447.1:c.1222C>T	NP_001257376.1:p.Arg408Trp
NM_001270448.1:c.925C>T	NP_001257377.1:p.Arg309Trp
XM_006721516.2:c.1153C>T	XP_006721579.2:p.Arg385Trp
XM_011523829.1:c.1153C>T	XP_011522131.1:p.Arg385Trp
XM_011523830.1:c.1153C>T	XP_011522132.1:p.Arg385Trp
XR_934021.1:n.1260C>T
XR_934022.1:n.1260C>T
XR_934023.1:n.1260C>T
XM_006721516.3:c.1153C>T	XP_006721579.2:p.Arg385Trp
XM_011523829.2:c.1153C>T	XP_011522131.1:p.Arg385Trp
XM_011523830.2:c.1153C>T	XP_011522132.1:p.Arg385Trp
XM_024450741.1:c.1153C>T	XP_024306509.1:p.Arg385Trp
XR_934021.2:n.1212C>T
XR_934022.2:n.1212C>T
XR_934023.2:n.1212C>T
NM_000018.4:c.1153C>T MANE Select	NP_000009.1:p.Arg385Trp
NM_001033859.3:c.1087C>T	NP_001029031.1:p.Arg363Trp
NM_001270447.2:c.1222C>T	NP_001257376.1:p.Arg408Trp
NM_001270448.2:c.925C>T	NP_001257377.1:p.Arg309Trp