Canonical Allele Identifier: CA497694442

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1113054
• ClinVar RCV Id: RCV001440254
• dbSNP Id: rs1279657316
• gnomAD v2: 17-7127977-G-T
• gnomAD v4: 17-7224658-G-T
• MyVariant Identifiers: chr17:g.7127977G>T (hg19) ; chr17:g.7224658G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224658G>T , CM000679.2:g.7224658G>T	GRCh38
NC_000017.10:g.7127977G>T , CM000679.1:g.7127977G>T	GRCh37
NC_000017.9:g.7068701G>T	NCBI36
NG_007975.1:g.9825G>T
NG_008391.2:g.393C>A
NG_033038.1:g.14887C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1695G>T MANE Select	ENSP00000349297.5:p.Leu565=
ENST00000322910.9:c.*1650G>T	ENSP00000325395.5:n.*1650G>T
ENST00000350303.9:c.1629G>T	ENSP00000344152.5:p.Leu543=
ENST00000356839.9:c.1695G>T	ENSP00000349297.5:p.Leu565=
ENST00000542255.6:c.537-57G>T
ENST00000543245.6:c.1764G>T	ENSP00000438689.2:p.Leu588=
ENST00000578033.1:n.26G>T
ENST00000578319.5:n.276G>T
ENST00000578711.1:n.1154G>T
ENST00000578809.5:n.267G>T
ENST00000579425.5:n.811G>T
ENST00000579546.1:c.430G>T
ENST00000582450.1:n.292G>T
ENST00000583074.5:n.300-57G>T
ENST00000583848.5:c.65-4G>T	ENSP00000466487.1:n.65-4G>T
ENST00000583850.5:n.466G>T
ENST00000583858.5:c.626G>T
ENST00000585203.6:n.886G>T
NM_000018.3:c.1695G>T	NP_000009.1:p.Leu565=
NM_001033859.2:c.1629G>T	NP_001029031.1:p.Leu543=
NM_001270447.1:c.1764G>T	NP_001257376.1:p.Leu588=
NM_001270448.1:c.1467G>T	NP_001257377.1:p.Leu489=
XM_006721516.2:c.1679-57G>T	XP_006721579.2:n.1679-57G>T
XM_011523829.1:c.1577-57G>T	XP_011522131.1:n.1577-57G>T
XM_011523830.1:c.1593G>T	XP_011522132.1:p.Leu531=
XR_934021.1:n.1798G>T
XR_934022.1:n.1704G>T
XR_934023.1:n.1688-57G>T
XM_006721516.3:c.1679-57G>T	XP_006721579.2:n.1679-57G>T
XM_011523829.2:c.1577-57G>T	XP_011522131.1:n.1577-57G>T
XM_011523830.2:c.1593G>T	XP_011522132.1:p.Leu531=
XM_024450741.1:c.1683G>T	XP_024306509.1:p.Leu561=
XR_934021.2:n.1750G>T
XR_934022.2:n.1656G>T
XR_934023.2:n.1640-57G>T
NM_000018.4:c.1695G>T MANE Select	NP_000009.1:p.Leu565=
NM_001033859.3:c.1629G>T	NP_001029031.1:p.Leu543=
NM_001270447.2:c.1764G>T	NP_001257376.1:p.Leu588=
NM_001270448.2:c.1467G>T	NP_001257377.1:p.Leu489=