Canonical Allele Identifier: CA397722735

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124259C>G (hg19) ; chr17:g.7220940C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220940C>G , CM000679.2:g.7220940C>G	GRCh38
NC_000017.10:g.7124259C>G , CM000679.1:g.7124259C>G	GRCh37
NC_000017.9:g.7064983C>G	NCBI36
NG_007975.1:g.6107C>G
NG_008391.2:g.4111G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.359C>G MANE Select	ENSP00000349297.5:p.Ala120Gly
ENST00000322910.9:c.*314C>G	ENSP00000325395.5:n.*314C>G
ENST00000350303.9:c.293C>G	ENSP00000344152.5:p.Ala98Gly
ENST00000356839.9:c.359C>G	ENSP00000349297.5:p.Ala120Gly
ENST00000543245.6:c.428C>G	ENSP00000438689.2:p.Ala143Gly
ENST00000577191.5:n.436C>G
ENST00000577433.5:n.567C>G
ENST00000577857.5:n.293+110C>G
ENST00000579286.5:n.540C>G
ENST00000579886.2:c.202-5C>G	ENSP00000463246.1:n.202-5C>G
ENST00000580365.1:n.90C>G
ENST00000581378.5:c.58C>G
ENST00000581562.5:n.406C>G
ENST00000582056.5:n.542C>G
ENST00000582166.1:n.340C>G
ENST00000583312.5:c.359C>G	ENSP00000467920.1:p.Ala120Gly
ENST00000584103.5:c.392C>G	ENSP00000465353.1:p.Ala131Gly
NM_000018.3:c.359C>G	NP_000009.1:p.Ala120Gly
NM_001033859.2:c.293C>G	NP_001029031.1:p.Ala98Gly
NM_001270447.1:c.428C>G	NP_001257376.1:p.Ala143Gly
NM_001270448.1:c.131C>G	NP_001257377.1:p.Ala44Gly
XM_006721516.2:c.359C>G	XP_006721579.2:p.Ala120Gly
XM_011523829.1:c.359C>G	XP_011522131.1:p.Ala120Gly
XM_011523830.1:c.359C>G	XP_011522132.1:p.Ala120Gly
XR_934021.1:n.466C>G
XR_934022.1:n.466C>G
XR_934023.1:n.466C>G
XM_006721516.3:c.359C>G	XP_006721579.2:p.Ala120Gly
XM_011523829.2:c.359C>G	XP_011522131.1:p.Ala120Gly
XM_011523830.2:c.359C>G	XP_011522132.1:p.Ala120Gly
XM_024450741.1:c.359C>G	XP_024306509.1:p.Ala120Gly
XR_934021.2:n.418C>G
XR_934022.2:n.418C>G
XR_934023.2:n.418C>G
NM_000018.4:c.359C>G MANE Select	NP_000009.1:p.Ala120Gly
NM_001033859.3:c.293C>G	NP_001029031.1:p.Ala98Gly
NM_001270447.2:c.428C>G	NP_001257376.1:p.Ala143Gly
NM_001270448.2:c.131C>G	NP_001257377.1:p.Ala44Gly