Canonical Allele Identifier: CA397724952

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223995G>A , CM000679.2:g.7223995G>A	GRCh38
NC_000017.10:g.7127314G>A , CM000679.1:g.7127314G>A	GRCh37
NC_000017.9:g.7068038G>A	NCBI36
NG_007975.1:g.9162G>A
NG_008391.2:g.1056C>T
NG_033038.1:g.15550C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.4:c.1360G>A MANE Select	NP_000009.1:p.Asp454Asn
ENST00000356839.10:c.1360G>A MANE Select	ENSP00000349297.5:p.Asp454Asn
NM_000018.3:c.1360G>A	NP_000009.1:p.Asp454Asn
NM_001033859.2:c.1294G>A	NP_001029031.1:p.Asp432Asn
NM_001033859.3:c.1294G>A	NP_001029031.1:p.Asp432Asn
NM_001270447.1:c.1429G>A	NP_001257376.1:p.Asp477Asn
NM_001270447.2:c.1429G>A	NP_001257376.1:p.Asp477Asn
NM_001270448.1:c.1132G>A	NP_001257377.1:p.Asp378Asn
NM_001270448.2:c.1132G>A	NP_001257377.1:p.Asp378Asn
ENST00000322910.9:c.*1315G>A	ENSP00000325395.5:n.*1315G>A
ENST00000350303.9:c.1294G>A	ENSP00000344152.5:p.Asp432Asn
ENST00000356839.9:c.1360G>A	ENSP00000349297.5:p.Asp454Asn
ENST00000542255.6:c.218G>A
ENST00000543245.6:c.1429G>A	ENSP00000438689.2:p.Asp477Asn
ENST00000578711.1:n.491G>A
ENST00000579425.5:n.476G>A
ENST00000579546.1:c.197G>A
ENST00000579894.5:n.71G>A
ENST00000583074.5:n.79G>A
ENST00000583850.5:n.135G>A
ENST00000583858.5:c.389G>A
ENST00000585203.6:n.551G>A
XM_006721516.2:c.1360G>A	XP_006721579.2:p.Asp454Asn
XM_006721516.3:c.1360G>A	XP_006721579.2:p.Asp454Asn
XM_011523829.1:c.1360G>A	XP_011522131.1:p.Asp454Asn
XM_011523829.2:c.1360G>A	XP_011522131.1:p.Asp454Asn
XM_011523830.1:c.1360G>A	XP_011522132.1:p.Asp454Asn
XM_011523830.2:c.1360G>A	XP_011522132.1:p.Asp454Asn
XM_024450741.1:c.1360G>A	XP_024306509.1:p.Asp454Asn
XR_934021.1:n.1467G>A
XR_934021.2:n.1419G>A
XR_934022.1:n.1467G>A
XR_934022.2:n.1419G>A
XR_934023.1:n.1467G>A
XR_934023.2:n.1419G>A