Canonical Allele Identifier: CA397723018

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1346963
• ClinVar RCV Id: RCV002032916
• dbSNP Id: rs1240846419
• gnomAD v3: 17-7221550-G-C
• gnomAD v4: 17-7221550-G-C
• MyVariant Identifiers: chr17:g.7124869G>C (hg19) ; chr17:g.7221550G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221550G>C , CM000679.2:g.7221550G>C	GRCh38
NC_000017.10:g.7124869G>C , CM000679.1:g.7124869G>C	GRCh37
NC_000017.9:g.7065593G>C	NCBI36
NG_007975.1:g.6717G>C
NG_008391.2:g.3501C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.490G>C MANE Select	ENSP00000349297.5:p.Val164Leu
ENST00000322910.9:c.*445G>C	ENSP00000325395.5:n.*445G>C
ENST00000350303.9:c.424G>C	ENSP00000344152.5:p.Val142Leu
ENST00000356839.9:c.490G>C	ENSP00000349297.5:p.Val164Leu
ENST00000543245.6:c.559G>C	ENSP00000438689.2:p.Val187Leu
ENST00000577191.5:n.567G>C
ENST00000577433.5:n.698G>C
ENST00000577857.5:n.306G>C
ENST00000579286.5:n.671G>C
ENST00000579886.2:c.328G>C	ENSP00000463246.1:p.Val110Leu
ENST00000580365.1:n.221G>C
ENST00000581378.5:c.208G>C
ENST00000581562.5:n.525-402G>C
ENST00000582166.1:n.471G>C
ENST00000583312.5:c.490G>C	ENSP00000467920.1:p.Val164Leu
ENST00000583760.1:n.272G>C
NM_000018.3:c.490G>C	NP_000009.1:p.Val164Leu
NM_001033859.2:c.424G>C	NP_001029031.1:p.Val142Leu
NM_001270447.1:c.559G>C	NP_001257376.1:p.Val187Leu
NM_001270448.1:c.262G>C	NP_001257377.1:p.Val88Leu
XM_006721516.2:c.490G>C	XP_006721579.2:p.Val164Leu
XM_011523829.1:c.490G>C	XP_011522131.1:p.Val164Leu
XM_011523830.1:c.490G>C	XP_011522132.1:p.Val164Leu
XR_934021.1:n.597G>C
XR_934022.1:n.597G>C
XR_934023.1:n.597G>C
XM_006721516.3:c.490G>C	XP_006721579.2:p.Val164Leu
XM_011523829.2:c.490G>C	XP_011522131.1:p.Val164Leu
XM_011523830.2:c.490G>C	XP_011522132.1:p.Val164Leu
XM_024450741.1:c.490G>C	XP_024306509.1:p.Val164Leu
XR_934021.2:n.549G>C
XR_934022.2:n.549G>C
XR_934023.2:n.549G>C
NM_000018.4:c.490G>C MANE Select	NP_000009.1:p.Val164Leu
NM_001033859.3:c.424G>C	NP_001029031.1:p.Val142Leu
NM_001270447.2:c.559G>C	NP_001257376.1:p.Val187Leu
NM_001270448.2:c.262G>C	NP_001257377.1:p.Val88Leu