Canonical Allele Identifier: CA397725744

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128009A>T (hg19) ; chr17:g.7224690A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224690A>T , CM000679.2:g.7224690A>T	GRCh38
NC_000017.10:g.7128009A>T , CM000679.1:g.7128009A>T	GRCh37
NC_000017.9:g.7068733A>T	NCBI36
NG_007975.1:g.9857A>T
NG_008391.2:g.361T>A
NG_033038.1:g.14855T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1727A>T MANE Select	ENSP00000349297.5:p.Tyr576Phe
ENST00000322910.9:c.*1682A>T	ENSP00000325395.5:n.*1682A>T
ENST00000350303.9:c.1661A>T	ENSP00000344152.5:p.Tyr554Phe
ENST00000356839.9:c.1727A>T	ENSP00000349297.5:p.Tyr576Phe
ENST00000542255.6:c.537-25A>T
ENST00000543245.6:c.1796A>T	ENSP00000438689.2:p.Tyr599Phe
ENST00000578033.1:n.58A>T
ENST00000578319.5:n.308A>T
ENST00000578711.1:n.1186A>T
ENST00000578809.5:n.299A>T
ENST00000579425.5:n.843A>T
ENST00000579546.1:c.462A>T
ENST00000583074.5:n.300-25A>T
ENST00000583848.5:c.93A>T	ENSP00000466487.1:p.Leu31=
ENST00000583850.5:n.498A>T
ENST00000583858.5:c.658A>T
ENST00000585203.6:n.918A>T
NM_000018.3:c.1727A>T	NP_000009.1:p.Tyr576Phe
NM_001033859.2:c.1661A>T	NP_001029031.1:p.Tyr554Phe
NM_001270447.1:c.1796A>T	NP_001257376.1:p.Tyr599Phe
NM_001270448.1:c.1499A>T	NP_001257377.1:p.Tyr500Phe
XM_006721516.2:c.1679-25A>T	XP_006721579.2:n.1679-25A>T
XM_011523829.1:c.1577-25A>T	XP_011522131.1:n.1577-25A>T
XM_011523830.1:c.1625A>T	XP_011522132.1:p.Tyr542Phe
XR_934021.1:n.1830A>T
XR_934022.1:n.1736A>T
XR_934023.1:n.1688-25A>T
XM_006721516.3:c.1679-25A>T	XP_006721579.2:n.1679-25A>T
XM_011523829.2:c.1577-25A>T	XP_011522131.1:n.1577-25A>T
XM_011523830.2:c.1625A>T	XP_011522132.1:p.Tyr542Phe
XM_024450741.1:c.1715A>T	XP_024306509.1:p.Tyr572Phe
XR_934021.2:n.1782A>T
XR_934022.2:n.1688A>T
XR_934023.2:n.1640-25A>T
NM_000018.4:c.1727A>T MANE Select	NP_000009.1:p.Tyr576Phe
NM_001033859.3:c.1661A>T	NP_001029031.1:p.Tyr554Phe
NM_001270447.2:c.1796A>T	NP_001257376.1:p.Tyr599Phe
NM_001270448.2:c.1499A>T	NP_001257377.1:p.Tyr500Phe