Canonical Allele Identifier: CA8338312

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1492241
• ClinVar RCV Id: RCV002012371
• dbSNP Id: rs771122302
• ExAC: 17:7128363 A / C
• gnomAD v2: 17-7128363-A-C
• gnomAD v4: 17-7225044-A-C
• MyVariant Identifiers: chr17:g.7128363A>C (hg19) ; chr17:g.7225044A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225044A>C , CM000679.2:g.7225044A>C	GRCh38
NC_000017.10:g.7128363A>C , CM000679.1:g.7128363A>C	GRCh37
NC_000017.9:g.7069087A>C	NCBI36
NG_007975.1:g.10211A>C
NG_008391.2:g.7T>G
NG_033038.1:g.14501T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1915A>C MANE Select	ENSP00000349297.5:p.Lys639Gln
ENST00000322910.9:c.*1870A>C	ENSP00000325395.5:n.*1870A>C
ENST00000350303.9:c.1849A>C	ENSP00000344152.5:p.Lys617Gln
ENST00000356839.9:c.1915A>C	ENSP00000349297.5:p.Lys639Gln
ENST00000542255.6:c.794A>C
ENST00000543245.6:c.1984A>C	ENSP00000438689.2:p.Lys662Gln
ENST00000578033.1:n.340A>C
ENST00000578319.5:n.496A>C
ENST00000578711.1:n.1540A>C
ENST00000578809.5:n.487A>C
ENST00000579425.5:n.1031A>C
ENST00000583848.5:c.281A>C	ENSP00000466487.1:n.281A>C
ENST00000583850.5:n.686A>C
ENST00000583858.5:c.846A>C
NM_000018.3:c.1915A>C	NP_000009.1:p.Lys639Gln
NM_001033859.2:c.1849A>C	NP_001029031.1:p.Lys617Gln
NM_001270447.1:c.1984A>C	NP_001257376.1:p.Lys662Gln
NM_001270448.1:c.1687A>C	NP_001257377.1:p.Lys563Gln
XM_006721516.2:c.1936A>C	XP_006721579.2:p.Lys646Gln
XM_011523829.1:c.1834A>C	XP_011522131.1:p.Lys612Gln
XM_011523830.1:c.1813A>C	XP_011522132.1:p.Lys605Gln
XR_934021.1:n.2018A>C
XR_934022.1:n.1924A>C
XR_934023.1:n.1945A>C
XM_006721516.3:c.1936A>C	XP_006721579.2:p.Lys646Gln
XM_011523829.2:c.1834A>C	XP_011522131.1:p.Lys612Gln
XM_011523830.2:c.1813A>C	XP_011522132.1:p.Lys605Gln
XM_024450741.1:c.1903A>C	XP_024306509.1:p.Lys635Gln
XR_934021.2:n.1970A>C
XR_934022.2:n.1876A>C
XR_934023.2:n.1897A>C
NM_000018.4:c.1915A>C MANE Select	NP_000009.1:p.Lys639Gln
NM_001033859.3:c.1849A>C	NP_001029031.1:p.Lys617Gln
NM_001270447.2:c.1984A>C	NP_001257376.1:p.Lys662Gln
NM_001270448.2:c.1687A>C	NP_001257377.1:p.Lys563Gln