Canonical Allele Identifier: CA397722205

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220480C>A , CM000679.2:g.7220480C>A	GRCh38
NC_000017.10:g.7123799C>A , CM000679.1:g.7123799C>A	GRCh37
NC_000017.9:g.7064523C>A	NCBI36
NG_007975.1:g.5647C>A
NG_008391.2:g.4571G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.4:c.155C>A MANE Select	NP_000009.1:p.Ser52Ter
ENST00000356839.10:c.155C>A MANE Select	ENSP00000349297.5:p.Ser52Ter
NM_000018.3:c.155C>A	NP_000009.1:p.Ser52Ter
NM_001033859.2:c.139-124C>A	NP_001029031.1:n.139-124C>A
NM_001033859.3:c.139-124C>A	NP_001029031.1:n.139-124C>A
NM_001270447.1:c.224C>A	NP_001257376.1:p.Ser75Ter
NM_001270447.2:c.224C>A	NP_001257376.1:p.Ser75Ter
NM_001270448.1:c.-74C>A	NP_001257377.1:n.-74C>A
NM_001270448.2:c.-74C>A	NP_001257377.1:n.-74C>A
ENST00000322910.9:c.*110C>A	ENSP00000325395.5:n.*110C>A
ENST00000350303.9:c.139-124C>A	ENSP00000344152.5:n.139-124C>A
ENST00000356839.9:c.155C>A	ENSP00000349297.5:p.Ser52Ter
ENST00000543245.6:c.224C>A	ENSP00000438689.2:p.Ser75Ter
ENST00000577191.5:n.232C>A
ENST00000577433.5:n.289C>A
ENST00000577857.5:n.228+283C>A
ENST00000578269.5:n.528C>A
ENST00000578421.1:n.289C>A
ENST00000579286.5:n.262C>A
ENST00000579886.2:c.155C>A	ENSP00000463246.1:p.Ser52Ter
ENST00000580263.5:n.245C>A
ENST00000581562.5:n.202C>A
ENST00000582056.5:n.245C>A
ENST00000582166.1:n.43C>A
ENST00000582356.5:n.280C>A
ENST00000583312.5:c.155C>A	ENSP00000467920.1:p.Ser52Ter
ENST00000584103.5:c.155C>A	ENSP00000465353.1:p.Ser52Ter
XM_006721516.2:c.155C>A	XP_006721579.2:p.Ser52Ter
XM_006721516.3:c.155C>A	XP_006721579.2:p.Ser52Ter
XM_011523829.1:c.155C>A	XP_011522131.1:p.Ser52Ter
XM_011523829.2:c.155C>A	XP_011522131.1:p.Ser52Ter
XM_011523830.1:c.155C>A	XP_011522132.1:p.Ser52Ter
XM_011523830.2:c.155C>A	XP_011522132.1:p.Ser52Ter
XM_024450741.1:c.155C>A	XP_024306509.1:p.Ser52Ter
XR_934021.1:n.262C>A
XR_934021.2:n.214C>A
XR_934022.1:n.262C>A
XR_934022.2:n.214C>A
XR_934023.1:n.262C>A
XR_934023.2:n.214C>A