Canonical Allele Identifier: CA220213

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 92286
• ClinVar RCV Id: RCV000077919 ; RCV000179696
• dbSNP Id: rs369560930
• ExAC: 17:7124899 G / A
• gnomAD v2: 17-7124899-G-A
• gnomAD v3: 17-7221580-G-A
• gnomAD v4: 17-7221580-G-A
• COSMIC: COSM983824
• MyVariant Identifiers: chr17:g.7124899G>A (hg19) ; chr17:g.7221580G>A (hg38)
• PubMed: PMID:9973285 ; PMID:17999356 ; PMID:18670371 ; PMID:20060901 ; PMID:23430950 ; PMID:26881790

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221580G>A , CM000679.2:g.7221580G>A	GRCh38
NC_000017.10:g.7124899G>A , CM000679.1:g.7124899G>A	GRCh37
NC_000017.9:g.7065623G>A	NCBI36
NG_007975.1:g.6747G>A
NG_008391.2:g.3471C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.520G>A MANE Select	ENSP00000349297.5:p.Val174Met
ENST00000322910.9:c.*475G>A	ENSP00000325395.5:n.*475G>A
ENST00000350303.9:c.454G>A	ENSP00000344152.5:p.Val152Met
ENST00000356839.9:c.520G>A	ENSP00000349297.5:p.Val174Met
ENST00000543245.6:c.589G>A	ENSP00000438689.2:p.Val197Met
ENST00000577191.5:n.597G>A
ENST00000577433.5:n.728G>A
ENST00000577857.5:n.336G>A
ENST00000579286.5:n.701G>A
ENST00000579886.2:c.358G>A	ENSP00000463246.1:p.Val120Met
ENST00000580365.1:n.251G>A
ENST00000581378.5:c.238G>A
ENST00000581562.5:n.525-372G>A
ENST00000582166.1:n.501G>A
ENST00000583312.5:c.520G>A	ENSP00000467920.1:p.Val174Met
ENST00000583760.1:n.302G>A
NM_000018.3:c.520G>A	NP_000009.1:p.Val174Met
NM_001033859.2:c.454G>A	NP_001029031.1:p.Val152Met
NM_001270447.1:c.589G>A	NP_001257376.1:p.Val197Met
NM_001270448.1:c.292G>A	NP_001257377.1:p.Val98Met
XM_006721516.2:c.520G>A	XP_006721579.2:p.Val174Met
XM_011523829.1:c.520G>A	XP_011522131.1:p.Val174Met
XM_011523830.1:c.520G>A	XP_011522132.1:p.Val174Met
XR_934021.1:n.627G>A
XR_934022.1:n.627G>A
XR_934023.1:n.627G>A
XM_006721516.3:c.520G>A	XP_006721579.2:p.Val174Met
XM_011523829.2:c.520G>A	XP_011522131.1:p.Val174Met
XM_011523830.2:c.520G>A	XP_011522132.1:p.Val174Met
XM_024450741.1:c.520G>A	XP_024306509.1:p.Val174Met
XR_934021.2:n.579G>A
XR_934022.2:n.579G>A
XR_934023.2:n.579G>A
NM_000018.4:c.520G>A MANE Select	NP_000009.1:p.Val174Met
NM_001033859.3:c.454G>A	NP_001029031.1:p.Val152Met
NM_001270447.2:c.589G>A	NP_001257376.1:p.Val197Met
NM_001270448.2:c.292G>A	NP_001257377.1:p.Val98Met