Canonical Allele Identifier: CA397724769

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 617954
• ClinVar RCV Id: RCV000755775 ; RCV003141736
• dbSNP Id: rs1567567312
• gnomAD v4: 17-7223824-G-C
• MyVariant Identifiers: chr17:g.7127143G>C (hg19) ; chr17:g.7223824G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223824G>C , CM000679.2:g.7223824G>C	GRCh38
NC_000017.10:g.7127143G>C , CM000679.1:g.7127143G>C	GRCh37
NC_000017.9:g.7067867G>C	NCBI36
NG_007975.1:g.8991G>C
NG_008391.2:g.1227C>G
NG_033038.1:g.15721C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1281G>C MANE Select	ENSP00000349297.5:p.Trp427Cys
ENST00000322910.9:c.*1236G>C	ENSP00000325395.5:n.*1236G>C
ENST00000350303.9:c.1215G>C	ENSP00000344152.5:p.Trp405Cys
ENST00000356839.9:c.1281G>C	ENSP00000349297.5:p.Trp427Cys
ENST00000542255.6:c.139G>C
ENST00000543245.6:c.1350G>C	ENSP00000438689.2:p.Trp450Cys
ENST00000578579.2:n.452G>C
ENST00000578711.1:n.320G>C
ENST00000578824.5:n.697G>C
ENST00000579425.5:n.305G>C
ENST00000579546.1:c.118G>C
ENST00000583850.5:n.56G>C
ENST00000583858.5:c.310G>C
ENST00000585203.6:n.489G>C
NM_000018.3:c.1281G>C	NP_000009.1:p.Trp427Cys
NM_001033859.2:c.1215G>C	NP_001029031.1:p.Trp405Cys
NM_001270447.1:c.1350G>C	NP_001257376.1:p.Trp450Cys
NM_001270448.1:c.1053G>C	NP_001257377.1:p.Trp351Cys
XM_006721516.2:c.1281G>C	XP_006721579.2:p.Trp427Cys
XM_011523829.1:c.1281G>C	XP_011522131.1:p.Trp427Cys
XM_011523830.1:c.1281G>C	XP_011522132.1:p.Trp427Cys
XR_934021.1:n.1388G>C
XR_934022.1:n.1388G>C
XR_934023.1:n.1388G>C
XM_006721516.3:c.1281G>C	XP_006721579.2:p.Trp427Cys
XM_011523829.2:c.1281G>C	XP_011522131.1:p.Trp427Cys
XM_011523830.2:c.1281G>C	XP_011522132.1:p.Trp427Cys
XM_024450741.1:c.1281G>C	XP_024306509.1:p.Trp427Cys
XR_934021.2:n.1340G>C
XR_934022.2:n.1340G>C
XR_934023.2:n.1340G>C
NM_000018.4:c.1281G>C MANE Select	NP_000009.1:p.Trp427Cys
NM_001033859.3:c.1215G>C	NP_001029031.1:p.Trp405Cys
NM_001270447.2:c.1350G>C	NP_001257376.1:p.Trp450Cys
NM_001270448.2:c.1053G>C	NP_001257377.1:p.Trp351Cys