Canonical Allele Identifier: CA397725730

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128003A>T (hg19) ; chr17:g.7224684A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224684A>T , CM000679.2:g.7224684A>T	GRCh38
NC_000017.10:g.7128003A>T , CM000679.1:g.7128003A>T	GRCh37
NC_000017.9:g.7068727A>T	NCBI36
NG_007975.1:g.9851A>T
NG_008391.2:g.367T>A
NG_033038.1:g.14861T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1721A>T MANE Select	ENSP00000349297.5:p.Asp574Val
ENST00000322910.9:c.*1676A>T	ENSP00000325395.5:n.*1676A>T
ENST00000350303.9:c.1655A>T	ENSP00000344152.5:p.Asp552Val
ENST00000356839.9:c.1721A>T	ENSP00000349297.5:p.Asp574Val
ENST00000542255.6:c.537-31A>T
ENST00000543245.6:c.1790A>T	ENSP00000438689.2:p.Asp597Val
ENST00000578033.1:n.52A>T
ENST00000578319.5:n.302A>T
ENST00000578711.1:n.1180A>T
ENST00000578809.5:n.293A>T
ENST00000579425.5:n.837A>T
ENST00000579546.1:c.456A>T
ENST00000583074.5:n.300-31A>T
ENST00000583848.5:c.87A>T	ENSP00000466487.1:p.Arg29=
ENST00000583850.5:n.492A>T
ENST00000583858.5:c.652A>T
ENST00000585203.6:n.912A>T
NM_000018.3:c.1721A>T	NP_000009.1:p.Asp574Val
NM_001033859.2:c.1655A>T	NP_001029031.1:p.Asp552Val
NM_001270447.1:c.1790A>T	NP_001257376.1:p.Asp597Val
NM_001270448.1:c.1493A>T	NP_001257377.1:p.Asp498Val
XM_006721516.2:c.1679-31A>T	XP_006721579.2:n.1679-31A>T
XM_011523829.1:c.1577-31A>T	XP_011522131.1:n.1577-31A>T
XM_011523830.1:c.1619A>T	XP_011522132.1:p.Asp540Val
XR_934021.1:n.1824A>T
XR_934022.1:n.1730A>T
XR_934023.1:n.1688-31A>T
XM_006721516.3:c.1679-31A>T	XP_006721579.2:n.1679-31A>T
XM_011523829.2:c.1577-31A>T	XP_011522131.1:n.1577-31A>T
XM_011523830.2:c.1619A>T	XP_011522132.1:p.Asp540Val
XM_024450741.1:c.1709A>T	XP_024306509.1:p.Asp570Val
XR_934021.2:n.1776A>T
XR_934022.2:n.1682A>T
XR_934023.2:n.1640-31A>T
NM_000018.4:c.1721A>T MANE Select	NP_000009.1:p.Asp574Val
NM_001033859.3:c.1655A>T	NP_001029031.1:p.Asp552Val
NM_001270447.2:c.1790A>T	NP_001257376.1:p.Asp597Val
NM_001270448.2:c.1493A>T	NP_001257377.1:p.Asp498Val