Canonical Allele Identifier: CA8338301

Gene: ACADVL

Linked Data

• dbSNP Id: rs369003897
• ExAC: 17:7128311 G / A
• gnomAD v2: 17-7128311-G-A
• gnomAD v4: 17-7224992-G-A
• MyVariant Identifiers: chr17:g.7128311G>A (hg19) ; chr17:g.7224992G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224992G>A , CM000679.2:g.7224992G>A	GRCh38
NC_000017.10:g.7128311G>A , CM000679.1:g.7128311G>A	GRCh37
NC_000017.9:g.7069035G>A	NCBI36
NG_007975.1:g.10159G>A
NG_008391.2:g.59C>T
NG_033038.1:g.14553C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1863G>A MANE Select	ENSP00000349297.5:p.Leu621=
ENST00000322910.9:c.*1818G>A	ENSP00000325395.5:n.*1818G>A
ENST00000350303.9:c.1797G>A	ENSP00000344152.5:p.Leu599=
ENST00000356839.9:c.1863G>A	ENSP00000349297.5:p.Leu621=
ENST00000542255.6:c.742G>A
ENST00000543245.6:c.1932G>A	ENSP00000438689.2:p.Leu644=
ENST00000578033.1:n.288G>A
ENST00000578319.5:n.444G>A
ENST00000578711.1:n.1488G>A
ENST00000578809.5:n.435G>A
ENST00000579425.5:n.979G>A
ENST00000583848.5:c.229G>A	ENSP00000466487.1:n.229G>A
ENST00000583850.5:n.634G>A
ENST00000583858.5:c.794G>A
NM_000018.3:c.1863G>A	NP_000009.1:p.Leu621=
NM_001033859.2:c.1797G>A	NP_001029031.1:p.Leu599=
NM_001270447.1:c.1932G>A	NP_001257376.1:p.Leu644=
NM_001270448.1:c.1635G>A	NP_001257377.1:p.Leu545=
XM_006721516.2:c.1884G>A	XP_006721579.2:p.Leu628=
XM_011523829.1:c.1782G>A	XP_011522131.1:p.Leu594=
XM_011523830.1:c.1761G>A	XP_011522132.1:p.Leu587=
XR_934021.1:n.1966G>A
XR_934022.1:n.1872G>A
XR_934023.1:n.1893G>A
XM_006721516.3:c.1884G>A	XP_006721579.2:p.Leu628=
XM_011523829.2:c.1782G>A	XP_011522131.1:p.Leu594=
XM_011523830.2:c.1761G>A	XP_011522132.1:p.Leu587=
XM_024450741.1:c.1851G>A	XP_024306509.1:p.Leu617=
XR_934021.2:n.1918G>A
XR_934022.2:n.1824G>A
XR_934023.2:n.1845G>A
NM_000018.4:c.1863G>A MANE Select	NP_000009.1:p.Leu621=
NM_001033859.3:c.1797G>A	NP_001029031.1:p.Leu599=
NM_001270447.2:c.1932G>A	NP_001257376.1:p.Leu644=
NM_001270448.2:c.1635G>A	NP_001257377.1:p.Leu545=