Canonical Allele Identifier: CA287434795

Gene: ACADVL

Linked Data

• dbSNP Id: rs201498083
• gnomAD v2: 17-7124097-A-G
• gnomAD v3: 17-7220778-A-G
• gnomAD v4: 17-7220778-A-G
• MyVariant Identifiers: chr17:g.7124097A>G (hg19) ; chr17:g.7220778A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220778A>G , CM000679.2:g.7220778A>G	GRCh38
NC_000017.10:g.7124097A>G , CM000679.1:g.7124097A>G	GRCh37
NC_000017.9:g.7064821A>G	NCBI36
NG_007975.1:g.5945A>G
NG_008391.2:g.4273T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.290A>G MANE Select	ENSP00000349297.5:p.Glu97Gly
ENST00000322910.9:c.*245A>G	ENSP00000325395.5:n.*245A>G
ENST00000350303.9:c.224A>G	ENSP00000344152.5:p.Glu75Gly
ENST00000356839.9:c.290A>G	ENSP00000349297.5:p.Glu97Gly
ENST00000543245.6:c.359A>G	ENSP00000438689.2:p.Glu120Gly
ENST00000577191.5:n.367A>G
ENST00000577433.5:n.498A>G
ENST00000577857.5:n.241A>G
ENST00000579286.5:n.471A>G
ENST00000579886.2:c.202-167A>G	ENSP00000463246.1:n.202-167A>G
ENST00000580263.5:n.543A>G
ENST00000580365.1:n.21A>G
ENST00000581562.5:n.337A>G
ENST00000582056.5:n.380A>G
ENST00000582166.1:n.178A>G
ENST00000582356.5:n.489A>G
ENST00000583312.5:c.290A>G	ENSP00000467920.1:p.Glu97Gly
ENST00000584103.5:c.290A>G	ENSP00000465353.1:p.Glu97Gly
NM_000018.3:c.290A>G	NP_000009.1:p.Glu97Gly
NM_001033859.2:c.224A>G	NP_001029031.1:p.Glu75Gly
NM_001270447.1:c.359A>G	NP_001257376.1:p.Glu120Gly
NM_001270448.1:c.62A>G	NP_001257377.1:p.Glu21Gly
XM_006721516.2:c.290A>G	XP_006721579.2:p.Glu97Gly
XM_011523829.1:c.290A>G	XP_011522131.1:p.Glu97Gly
XM_011523830.1:c.290A>G	XP_011522132.1:p.Glu97Gly
XR_934021.1:n.397A>G
XR_934022.1:n.397A>G
XR_934023.1:n.397A>G
XM_006721516.3:c.290A>G	XP_006721579.2:p.Glu97Gly
XM_011523829.2:c.290A>G	XP_011522131.1:p.Glu97Gly
XM_011523830.2:c.290A>G	XP_011522132.1:p.Glu97Gly
XM_024450741.1:c.290A>G	XP_024306509.1:p.Glu97Gly
XR_934021.2:n.349A>G
XR_934022.2:n.349A>G
XR_934023.2:n.349A>G
NM_000018.4:c.290A>G MANE Select	NP_000009.1:p.Glu97Gly
NM_001033859.3:c.224A>G	NP_001029031.1:p.Glu75Gly
NM_001270447.2:c.359A>G	NP_001257376.1:p.Glu120Gly
NM_001270448.2:c.62A>G	NP_001257377.1:p.Glu21Gly