Canonical Allele Identifier: CA397726213

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071414674
• gnomAD v4: 17-7225065-G-A
• MyVariant Identifiers: chr17:g.7128384G>A (hg19) ; chr17:g.7225065G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225065G>A , CM000679.2:g.7225065G>A	GRCh38
NC_000017.10:g.7128384G>A , CM000679.1:g.7128384G>A	GRCh37
NC_000017.9:g.7069108G>A	NCBI36
NG_007975.1:g.10232G>A
NG_033038.1:g.14480C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1936G>A MANE Select	ENSP00000349297.5:p.Gly646Ser
ENST00000322910.9:c.*1891G>A	ENSP00000325395.5:n.*1891G>A
ENST00000350303.9:c.1870G>A	ENSP00000344152.5:p.Gly624Ser
ENST00000356839.9:c.1936G>A	ENSP00000349297.5:p.Gly646Ser
ENST00000542255.6:c.815G>A
ENST00000543245.6:c.2005G>A	ENSP00000438689.2:p.Gly669Ser
ENST00000578033.1:n.361G>A
ENST00000578319.5:n.517G>A
ENST00000578711.1:n.1561G>A
ENST00000578809.5:n.508G>A
ENST00000579425.5:n.1052G>A
ENST00000583848.5:c.302G>A	ENSP00000466487.1:n.302G>A
ENST00000583850.5:n.707G>A
ENST00000583858.5:c.867G>A
NM_000018.3:c.1936G>A	NP_000009.1:p.Gly646Ser
NM_001033859.2:c.1870G>A	NP_001029031.1:p.Gly624Ser
NM_001270447.1:c.2005G>A	NP_001257376.1:p.Gly669Ser
NM_001270448.1:c.1708G>A	NP_001257377.1:p.Gly570Ser
XM_006721516.2:c.1957G>A	XP_006721579.2:p.Gly653Ser
XM_011523829.1:c.1855G>A	XP_011522131.1:p.Gly619Ser
XM_011523830.1:c.1834G>A	XP_011522132.1:p.Gly612Ser
XR_934021.1:n.2039G>A
XR_934022.1:n.1945G>A
XR_934023.1:n.1966G>A
XM_006721516.3:c.1957G>A	XP_006721579.2:p.Gly653Ser
XM_011523829.2:c.1855G>A	XP_011522131.1:p.Gly619Ser
XM_011523830.2:c.1834G>A	XP_011522132.1:p.Gly612Ser
XM_024450741.1:c.1924G>A	XP_024306509.1:p.Gly642Ser
XR_934021.2:n.1991G>A
XR_934022.2:n.1897G>A
XR_934023.2:n.1918G>A
NM_000018.4:c.1936G>A MANE Select	NP_000009.1:p.Gly646Ser
NM_001033859.3:c.1870G>A	NP_001029031.1:p.Gly624Ser
NM_001270447.2:c.2005G>A	NP_001257376.1:p.Gly669Ser
NM_001270448.2:c.1708G>A	NP_001257377.1:p.Gly570Ser