Canonical Allele Identifier: CA397724794

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127154A>T (hg19) ; chr17:g.7223835A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223835A>T , CM000679.2:g.7223835A>T	GRCh38
NC_000017.10:g.7127154A>T , CM000679.1:g.7127154A>T	GRCh37
NC_000017.9:g.7067878A>T	NCBI36
NG_007975.1:g.9002A>T
NG_008391.2:g.1216T>A
NG_033038.1:g.15710T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1292A>T MANE Select	ENSP00000349297.5:p.Asp431Val
ENST00000322910.9:c.*1247A>T	ENSP00000325395.5:n.*1247A>T
ENST00000350303.9:c.1226A>T	ENSP00000344152.5:p.Asp409Val
ENST00000356839.9:c.1292A>T	ENSP00000349297.5:p.Asp431Val
ENST00000542255.6:c.150A>T
ENST00000543245.6:c.1361A>T	ENSP00000438689.2:p.Asp454Val
ENST00000578711.1:n.331A>T
ENST00000578824.5:n.708A>T
ENST00000579425.5:n.316A>T
ENST00000579546.1:c.129A>T
ENST00000583074.5:n.11A>T
ENST00000583850.5:n.67A>T
ENST00000583858.5:c.321A>T
ENST00000585203.6:n.500A>T
NM_000018.3:c.1292A>T	NP_000009.1:p.Asp431Val
NM_001033859.2:c.1226A>T	NP_001029031.1:p.Asp409Val
NM_001270447.1:c.1361A>T	NP_001257376.1:p.Asp454Val
NM_001270448.1:c.1064A>T	NP_001257377.1:p.Asp355Val
XM_006721516.2:c.1292A>T	XP_006721579.2:p.Asp431Val
XM_011523829.1:c.1292A>T	XP_011522131.1:p.Asp431Val
XM_011523830.1:c.1292A>T	XP_011522132.1:p.Asp431Val
XR_934021.1:n.1399A>T
XR_934022.1:n.1399A>T
XR_934023.1:n.1399A>T
XM_006721516.3:c.1292A>T	XP_006721579.2:p.Asp431Val
XM_011523829.2:c.1292A>T	XP_011522131.1:p.Asp431Val
XM_011523830.2:c.1292A>T	XP_011522132.1:p.Asp431Val
XM_024450741.1:c.1292A>T	XP_024306509.1:p.Asp431Val
XR_934021.2:n.1351A>T
XR_934022.2:n.1351A>T
XR_934023.2:n.1351A>T
NM_000018.4:c.1292A>T MANE Select	NP_000009.1:p.Asp431Val
NM_001033859.3:c.1226A>T	NP_001029031.1:p.Asp409Val
NM_001270447.2:c.1361A>T	NP_001257376.1:p.Asp454Val
NM_001270448.2:c.1064A>T	NP_001257377.1:p.Asp355Val