Canonical Allele Identifier: CA287434293

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220524A>T , CM000679.2:g.7220524A>T	GRCh38
NC_000017.10:g.7123843A>T , CM000679.1:g.7123843A>T	GRCh37
NC_000017.9:g.7064567A>T	NCBI36
NG_007975.1:g.5691A>T
NG_008391.2:g.4527T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.4:c.199A>T MANE Select	NP_000009.1:p.Lys67Ter
ENST00000356839.10:c.199A>T MANE Select	ENSP00000349297.5:p.Lys67Ter
NM_000018.3:c.199A>T	NP_000009.1:p.Lys67Ter
NM_001033859.2:c.139-80A>T	NP_001029031.1:n.139-80A>T
NM_001033859.3:c.139-80A>T	NP_001029031.1:n.139-80A>T
NM_001270447.1:c.268A>T	NP_001257376.1:p.Lys90Ter
NM_001270447.2:c.268A>T	NP_001257376.1:p.Lys90Ter
NM_001270448.1:c.-30A>T	NP_001257377.1:n.-30A>T
NM_001270448.2:c.-30A>T	NP_001257377.1:n.-30A>T
ENST00000322910.9:c.*154A>T	ENSP00000325395.5:n.*154A>T
ENST00000350303.9:c.139-80A>T	ENSP00000344152.5:n.139-80A>T
ENST00000356839.9:c.199A>T	ENSP00000349297.5:p.Lys67Ter
ENST00000543245.6:c.268A>T	ENSP00000438689.2:p.Lys90Ter
ENST00000577191.5:n.276A>T
ENST00000577433.5:n.333A>T
ENST00000577857.5:n.229-242A>T
ENST00000578269.5:n.572A>T
ENST00000578421.1:n.333A>T
ENST00000579286.5:n.306A>T
ENST00000579886.2:c.199A>T	ENSP00000463246.1:p.Lys67Ter
ENST00000580263.5:n.289A>T
ENST00000581562.5:n.246A>T
ENST00000582056.5:n.289A>T
ENST00000582166.1:n.87A>T
ENST00000582356.5:n.324A>T
ENST00000583312.5:c.199A>T	ENSP00000467920.1:p.Lys67Ter
ENST00000584103.5:c.199A>T	ENSP00000465353.1:p.Lys67Ter
XM_006721516.2:c.199A>T	XP_006721579.2:p.Lys67Ter
XM_006721516.3:c.199A>T	XP_006721579.2:p.Lys67Ter
XM_011523829.1:c.199A>T	XP_011522131.1:p.Lys67Ter
XM_011523829.2:c.199A>T	XP_011522131.1:p.Lys67Ter
XM_011523830.1:c.199A>T	XP_011522132.1:p.Lys67Ter
XM_011523830.2:c.199A>T	XP_011522132.1:p.Lys67Ter
XM_024450741.1:c.199A>T	XP_024306509.1:p.Lys67Ter
XR_934021.1:n.306A>T
XR_934021.2:n.258A>T
XR_934022.1:n.306A>T
XR_934022.2:n.258A>T
XR_934023.1:n.306A>T
XR_934023.2:n.258A>T