Canonical Allele Identifier: CA397724983

Gene: ACADVL

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224011G>C , CM000679.2:g.7224011G>C	GRCh38
NC_000017.10:g.7127330G>C , CM000679.1:g.7127330G>C	GRCh37
NC_000017.9:g.7068054G>C	NCBI36
NG_007975.1:g.9178G>C
NG_008391.2:g.1040C>G
NG_033038.1:g.15534C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1376G>C MANE Select	ENSP00000349297.5:p.Arg459Pro
ENST00000322910.9:c.*1331G>C	ENSP00000325395.5:n.*1331G>C
ENST00000350303.9:c.1310G>C	ENSP00000344152.5:p.Arg437Pro
ENST00000356839.9:c.1376G>C	ENSP00000349297.5:p.Arg459Pro
ENST00000542255.6:c.234G>C
ENST00000543245.6:c.1445G>C	ENSP00000438689.2:p.Arg482Pro
ENST00000578711.1:n.507G>C
ENST00000579425.5:n.492G>C
ENST00000579546.1:c.213G>C
ENST00000579894.5:n.87G>C
ENST00000583074.5:n.95G>C
ENST00000583850.5:n.151G>C
ENST00000583858.5:c.405G>C
ENST00000585203.6:n.567G>C
NM_000018.3:c.1376G>C	NP_000009.1:p.Arg459Pro
NM_001033859.2:c.1310G>C	NP_001029031.1:p.Arg437Pro
NM_001270447.1:c.1445G>C	NP_001257376.1:p.Arg482Pro
NM_001270448.1:c.1148G>C	NP_001257377.1:p.Arg383Pro
XM_006721516.2:c.1376G>C	XP_006721579.2:p.Arg459Pro
XM_011523829.1:c.1376G>C	XP_011522131.1:p.Arg459Pro
XM_011523830.1:c.1376G>C	XP_011522132.1:p.Arg459Pro
XR_934021.1:n.1483G>C
XR_934022.1:n.1483G>C
XR_934023.1:n.1483G>C
XM_006721516.3:c.1376G>C	XP_006721579.2:p.Arg459Pro
XM_011523829.2:c.1376G>C	XP_011522131.1:p.Arg459Pro
XM_011523830.2:c.1376G>C	XP_011522132.1:p.Arg459Pro
XM_024450741.1:c.1376G>C	XP_024306509.1:p.Arg459Pro
XR_934021.2:n.1435G>C
XR_934022.2:n.1435G>C
XR_934023.2:n.1435G>C
NM_000018.4:c.1376G>C MANE Select	NP_000009.1:p.Arg459Pro
NM_001033859.3:c.1310G>C	NP_001029031.1:p.Arg437Pro
NM_001270447.2:c.1445G>C	NP_001257376.1:p.Arg482Pro
NM_001270448.2:c.1148G>C	NP_001257377.1:p.Arg383Pro