Canonical Allele Identifier: CA397725762

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224698-G-T
• MyVariant Identifiers: chr17:g.7128017G>T (hg19) ; chr17:g.7224698G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224698G>T , CM000679.2:g.7224698G>T	GRCh38
NC_000017.10:g.7128017G>T , CM000679.1:g.7128017G>T	GRCh37
NC_000017.9:g.7068741G>T	NCBI36
NG_007975.1:g.9865G>T
NG_008391.2:g.353C>A
NG_033038.1:g.14847C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1735G>T MANE Select	ENSP00000349297.5:p.Val579Leu
ENST00000322910.9:c.*1690G>T	ENSP00000325395.5:n.*1690G>T
ENST00000350303.9:c.1669G>T	ENSP00000344152.5:p.Val557Leu
ENST00000356839.9:c.1735G>T	ENSP00000349297.5:p.Val579Leu
ENST00000542255.6:c.537-17G>T
ENST00000543245.6:c.1804G>T	ENSP00000438689.2:p.Val602Leu
ENST00000578033.1:n.66G>T
ENST00000578319.5:n.316G>T
ENST00000578711.1:n.1194G>T
ENST00000578809.5:n.307G>T
ENST00000579425.5:n.851G>T
ENST00000579546.1:c.470G>T
ENST00000583074.5:n.300-17G>T
ENST00000583848.5:c.101G>T	ENSP00000466487.1:p.Gly34Val
ENST00000583850.5:n.506G>T
ENST00000583858.5:c.666G>T
ENST00000585203.6:n.926G>T
NM_000018.3:c.1735G>T	NP_000009.1:p.Val579Leu
NM_001033859.2:c.1669G>T	NP_001029031.1:p.Val557Leu
NM_001270447.1:c.1804G>T	NP_001257376.1:p.Val602Leu
NM_001270448.1:c.1507G>T	NP_001257377.1:p.Val503Leu
XM_006721516.2:c.1679-17G>T	XP_006721579.2:n.1679-17G>T
XM_011523829.1:c.1577-17G>T	XP_011522131.1:n.1577-17G>T
XM_011523830.1:c.1633G>T	XP_011522132.1:p.Val545Leu
XR_934021.1:n.1838G>T
XR_934022.1:n.1744G>T
XR_934023.1:n.1688-17G>T
XM_006721516.3:c.1679-17G>T	XP_006721579.2:n.1679-17G>T
XM_011523829.2:c.1577-17G>T	XP_011522131.1:n.1577-17G>T
XM_011523830.2:c.1633G>T	XP_011522132.1:p.Val545Leu
XM_024450741.1:c.1723G>T	XP_024306509.1:p.Val575Leu
XR_934021.2:n.1790G>T
XR_934022.2:n.1696G>T
XR_934023.2:n.1640-17G>T
NM_000018.4:c.1735G>T MANE Select	NP_000009.1:p.Val579Leu
NM_001033859.3:c.1669G>T	NP_001029031.1:p.Val557Leu
NM_001270447.2:c.1804G>T	NP_001257376.1:p.Val602Leu
NM_001270448.2:c.1507G>T	NP_001257377.1:p.Val503Leu