Canonical Allele Identifier: CA397722771

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124276G>T (hg19) ; chr17:g.7220957G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220957G>T , CM000679.2:g.7220957G>T	GRCh38
NC_000017.10:g.7124276G>T , CM000679.1:g.7124276G>T	GRCh37
NC_000017.9:g.7065000G>T	NCBI36
NG_007975.1:g.6124G>T
NG_008391.2:g.4094C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.376G>T MANE Select	ENSP00000349297.5:p.Glu126Ter
ENST00000322910.9:c.*331G>T	ENSP00000325395.5:n.*331G>T
ENST00000350303.9:c.310G>T	ENSP00000344152.5:p.Glu104Ter
ENST00000356839.9:c.376G>T	ENSP00000349297.5:p.Glu126Ter
ENST00000543245.6:c.445G>T	ENSP00000438689.2:p.Glu149Ter
ENST00000577191.5:n.453G>T
ENST00000577433.5:n.584G>T
ENST00000577857.5:n.293+127G>T
ENST00000579286.5:n.557G>T
ENST00000579886.2:c.214G>T	ENSP00000463246.1:p.Glu72Ter
ENST00000580365.1:n.107G>T
ENST00000581378.5:c.75G>T
ENST00000581562.5:n.423G>T
ENST00000582056.5:n.559G>T
ENST00000582166.1:n.357G>T
ENST00000583312.5:c.376G>T	ENSP00000467920.1:p.Glu126Ter
ENST00000584103.5:c.409G>T	ENSP00000465353.1:p.Glu137Ter
NM_000018.3:c.376G>T	NP_000009.1:p.Glu126Ter
NM_001033859.2:c.310G>T	NP_001029031.1:p.Glu104Ter
NM_001270447.1:c.445G>T	NP_001257376.1:p.Glu149Ter
NM_001270448.1:c.148G>T	NP_001257377.1:p.Glu50Ter
XM_006721516.2:c.376G>T	XP_006721579.2:p.Glu126Ter
XM_011523829.1:c.376G>T	XP_011522131.1:p.Glu126Ter
XM_011523830.1:c.376G>T	XP_011522132.1:p.Glu126Ter
XR_934021.1:n.483G>T
XR_934022.1:n.483G>T
XR_934023.1:n.483G>T
XM_006721516.3:c.376G>T	XP_006721579.2:p.Glu126Ter
XM_011523829.2:c.376G>T	XP_011522131.1:p.Glu126Ter
XM_011523830.2:c.376G>T	XP_011522132.1:p.Glu126Ter
XM_024450741.1:c.376G>T	XP_024306509.1:p.Glu126Ter
XR_934021.2:n.435G>T
XR_934022.2:n.435G>T
XR_934023.2:n.435G>T
NM_000018.4:c.376G>T MANE Select	NP_000009.1:p.Glu126Ter
NM_001033859.3:c.310G>T	NP_001029031.1:p.Glu104Ter
NM_001270447.2:c.445G>T	NP_001257376.1:p.Glu149Ter
NM_001270448.2:c.148G>T	NP_001257377.1:p.Glu50Ter