Canonical Allele Identifier: CA8337689

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220951G>A , CM000679.2:g.7220951G>A	GRCh38
NC_000017.10:g.7124270G>A , CM000679.1:g.7124270G>A	GRCh37
NC_000017.9:g.7064994G>A	NCBI36
NG_007975.1:g.6118G>A
NG_008391.2:g.4100C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.4:c.370G>A MANE Select	NP_000009.1:p.Ala124Thr
ENST00000356839.10:c.370G>A MANE Select	ENSP00000349297.5:p.Ala124Thr
NM_000018.3:c.370G>A	NP_000009.1:p.Ala124Thr
NM_001033859.2:c.304G>A	NP_001029031.1:p.Ala102Thr
NM_001033859.3:c.304G>A	NP_001029031.1:p.Ala102Thr
NM_001270447.1:c.439G>A	NP_001257376.1:p.Ala147Thr
NM_001270447.2:c.439G>A	NP_001257376.1:p.Ala147Thr
NM_001270448.1:c.142G>A	NP_001257377.1:p.Ala48Thr
NM_001270448.2:c.142G>A	NP_001257377.1:p.Ala48Thr
ENST00000322910.9:c.*325G>A	ENSP00000325395.5:n.*325G>A
ENST00000350303.9:c.304G>A	ENSP00000344152.5:p.Ala102Thr
ENST00000356839.9:c.370G>A	ENSP00000349297.5:p.Ala124Thr
ENST00000543245.6:c.439G>A	ENSP00000438689.2:p.Ala147Thr
ENST00000577191.5:n.447G>A
ENST00000577433.5:n.578G>A
ENST00000577857.5:n.293+121G>A
ENST00000579286.5:n.551G>A
ENST00000579886.2:c.208G>A	ENSP00000463246.1:p.Ala70Thr
ENST00000580365.1:n.101G>A
ENST00000581378.5:c.69G>A
ENST00000581562.5:n.417G>A
ENST00000582056.5:n.553G>A
ENST00000582166.1:n.351G>A
ENST00000583312.5:c.370G>A	ENSP00000467920.1:p.Ala124Thr
ENST00000584103.5:c.403G>A	ENSP00000465353.1:p.Ala135Thr
XM_006721516.2:c.370G>A	XP_006721579.2:p.Ala124Thr
XM_006721516.3:c.370G>A	XP_006721579.2:p.Ala124Thr
XM_011523829.1:c.370G>A	XP_011522131.1:p.Ala124Thr
XM_011523829.2:c.370G>A	XP_011522131.1:p.Ala124Thr
XM_011523830.1:c.370G>A	XP_011522132.1:p.Ala124Thr
XM_011523830.2:c.370G>A	XP_011522132.1:p.Ala124Thr
XM_024450741.1:c.370G>A	XP_024306509.1:p.Ala124Thr
XR_934021.1:n.477G>A
XR_934021.2:n.429G>A
XR_934022.1:n.477G>A
XR_934022.2:n.429G>A
XR_934023.1:n.477G>A
XR_934023.2:n.429G>A