Canonical Allele Identifier: CA397723080

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071227774
• gnomAD v4: 17-7221577-G-T
• MyVariant Identifiers: chr17:g.7124896G>T (hg19) ; chr17:g.7221577G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221577G>T , CM000679.2:g.7221577G>T	GRCh38
NC_000017.10:g.7124896G>T , CM000679.1:g.7124896G>T	GRCh37
NC_000017.9:g.7065620G>T	NCBI36
NG_007975.1:g.6744G>T
NG_008391.2:g.3474C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.517G>T MANE Select	ENSP00000349297.5:p.Gly173Cys
ENST00000322910.9:c.*472G>T	ENSP00000325395.5:n.*472G>T
ENST00000350303.9:c.451G>T	ENSP00000344152.5:p.Gly151Cys
ENST00000356839.9:c.517G>T	ENSP00000349297.5:p.Gly173Cys
ENST00000543245.6:c.586G>T	ENSP00000438689.2:p.Gly196Cys
ENST00000577191.5:n.594G>T
ENST00000577433.5:n.725G>T
ENST00000577857.5:n.333G>T
ENST00000579286.5:n.698G>T
ENST00000579886.2:c.355G>T	ENSP00000463246.1:p.Gly119Cys
ENST00000580365.1:n.248G>T
ENST00000581378.5:c.235G>T
ENST00000581562.5:n.525-375G>T
ENST00000582166.1:n.498G>T
ENST00000583312.5:c.517G>T	ENSP00000467920.1:p.Gly173Cys
ENST00000583760.1:n.299G>T
NM_000018.3:c.517G>T	NP_000009.1:p.Gly173Cys
NM_001033859.2:c.451G>T	NP_001029031.1:p.Gly151Cys
NM_001270447.1:c.586G>T	NP_001257376.1:p.Gly196Cys
NM_001270448.1:c.289G>T	NP_001257377.1:p.Gly97Cys
XM_006721516.2:c.517G>T	XP_006721579.2:p.Gly173Cys
XM_011523829.1:c.517G>T	XP_011522131.1:p.Gly173Cys
XM_011523830.1:c.517G>T	XP_011522132.1:p.Gly173Cys
XR_934021.1:n.624G>T
XR_934022.1:n.624G>T
XR_934023.1:n.624G>T
XM_006721516.3:c.517G>T	XP_006721579.2:p.Gly173Cys
XM_011523829.2:c.517G>T	XP_011522131.1:p.Gly173Cys
XM_011523830.2:c.517G>T	XP_011522132.1:p.Gly173Cys
XM_024450741.1:c.517G>T	XP_024306509.1:p.Gly173Cys
XR_934021.2:n.576G>T
XR_934022.2:n.576G>T
XR_934023.2:n.576G>T
NM_000018.4:c.517G>T MANE Select	NP_000009.1:p.Gly173Cys
NM_001033859.3:c.451G>T	NP_001029031.1:p.Gly151Cys
NM_001270447.2:c.586G>T	NP_001257376.1:p.Gly196Cys
NM_001270448.2:c.289G>T	NP_001257377.1:p.Gly97Cys