Canonical Allele Identifier: CA8337798

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932795
• ClinVar RCV Id: RCV001200743 ; RCV001806040 ; RCV001814279
• dbSNP Id: rs775400380
• ExAC: 17:7125276 A / C
• gnomAD v2: 17-7125276-A-C
• gnomAD v3: 17-7221957-A-C
• gnomAD v4: 17-7221957-A-C
• MyVariant Identifiers: chr17:g.7125276A>C (hg19) ; chr17:g.7221957A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221957A>C , CM000679.2:g.7221957A>C	GRCh38
NC_000017.10:g.7125276A>C , CM000679.1:g.7125276A>C	GRCh37
NC_000017.9:g.7066000A>C	NCBI36
NG_007975.1:g.7124A>C
NG_008391.2:g.3094T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.628A>C MANE Select	ENSP00000349297.5:p.Thr210Pro
ENST00000322910.9:c.*583A>C	ENSP00000325395.5:n.*583A>C
ENST00000350303.9:c.562A>C	ENSP00000344152.5:p.Thr188Pro
ENST00000356839.9:c.628A>C	ENSP00000349297.5:p.Thr210Pro
ENST00000543245.6:c.697A>C	ENSP00000438689.2:p.Thr233Pro
ENST00000577191.5:n.705A>C
ENST00000577857.5:n.444A>C
ENST00000579286.5:n.809A>C
ENST00000580365.1:n.359A>C
ENST00000581378.5:c.346A>C
ENST00000581562.5:n.530A>C
ENST00000582379.1:n.12A>C
ENST00000583312.5:c.643A>C	ENSP00000467920.1:p.Thr215Pro
ENST00000583760.1:n.410A>C
NM_000018.3:c.628A>C	NP_000009.1:p.Thr210Pro
NM_001033859.2:c.562A>C	NP_001029031.1:p.Thr188Pro
NM_001270447.1:c.697A>C	NP_001257376.1:p.Thr233Pro
NM_001270448.1:c.400A>C	NP_001257377.1:p.Thr134Pro
XM_006721516.2:c.628A>C	XP_006721579.2:p.Thr210Pro
XM_011523829.1:c.628A>C	XP_011522131.1:p.Thr210Pro
XM_011523830.1:c.628A>C	XP_011522132.1:p.Thr210Pro
XR_934021.1:n.735A>C
XR_934022.1:n.735A>C
XR_934023.1:n.735A>C
XM_006721516.3:c.628A>C	XP_006721579.2:p.Thr210Pro
XM_011523829.2:c.628A>C	XP_011522131.1:p.Thr210Pro
XM_011523830.2:c.628A>C	XP_011522132.1:p.Thr210Pro
XM_024450741.1:c.628A>C	XP_024306509.1:p.Thr210Pro
XR_934021.2:n.687A>C
XR_934022.2:n.687A>C
XR_934023.2:n.687A>C
NM_000018.4:c.628A>C MANE Select	NP_000009.1:p.Thr210Pro
NM_001033859.3:c.562A>C	NP_001029031.1:p.Thr188Pro
NM_001270447.2:c.697A>C	NP_001257376.1:p.Thr233Pro
NM_001270448.2:c.400A>C	NP_001257377.1:p.Thr134Pro