Canonical Allele Identifier: CA10640460

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 324989
• ClinVar RCV Id: RCV000373221
• dbSNP Id: rs749159573
• gnomAD v2: 17-7125399-A-G
• gnomAD v4: 17-7222080-A-G
• MyVariant Identifiers: chr17:g.7125399A>G (hg19) ; chr17:g.7222080A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222080A>G , CM000679.2:g.7222080A>G	GRCh38
NC_000017.10:g.7125399A>G , CM000679.1:g.7125399A>G	GRCh37
NC_000017.9:g.7066123A>G	NCBI36
NG_007975.1:g.7247A>G
NG_008391.2:g.2971T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.751A>G MANE Select	ENSP00000349297.5:p.Ser251Gly
ENST00000322910.9:c.*706A>G	ENSP00000325395.5:n.*706A>G
ENST00000350303.9:c.685A>G	ENSP00000344152.5:p.Ser229Gly
ENST00000356839.9:c.751A>G	ENSP00000349297.5:p.Ser251Gly
ENST00000543245.6:c.820A>G	ENSP00000438689.2:p.Ser274Gly
ENST00000577191.5:n.828A>G
ENST00000579286.5:n.932A>G
ENST00000580365.1:n.482A>G
ENST00000581378.5:c.469A>G
ENST00000582379.1:n.135A>G
ENST00000583760.1:n.533A>G
NM_000018.3:c.751A>G	NP_000009.1:p.Ser251Gly
NM_001033859.2:c.685A>G	NP_001029031.1:p.Ser229Gly
NM_001270447.1:c.820A>G	NP_001257376.1:p.Ser274Gly
NM_001270448.1:c.523A>G	NP_001257377.1:p.Ser175Gly
XM_006721516.2:c.751A>G	XP_006721579.2:p.Ser251Gly
XM_011523829.1:c.751A>G	XP_011522131.1:p.Ser251Gly
XM_011523830.1:c.751A>G	XP_011522132.1:p.Ser251Gly
XR_934021.1:n.858A>G
XR_934022.1:n.858A>G
XR_934023.1:n.858A>G
XM_006721516.3:c.751A>G	XP_006721579.2:p.Ser251Gly
XM_011523829.2:c.751A>G	XP_011522131.1:p.Ser251Gly
XM_011523830.2:c.751A>G	XP_011522132.1:p.Ser251Gly
XM_024450741.1:c.751A>G	XP_024306509.1:p.Ser251Gly
XR_934021.2:n.810A>G
XR_934022.2:n.810A>G
XR_934023.2:n.810A>G
NM_000018.4:c.751A>G MANE Select	NP_000009.1:p.Ser251Gly
NM_001033859.3:c.685A>G	NP_001029031.1:p.Ser229Gly
NM_001270447.2:c.820A>G	NP_001257376.1:p.Ser274Gly
NM_001270448.2:c.523A>G	NP_001257377.1:p.Ser175Gly