Canonical Allele Identifier: CA397722825

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124299G>T (hg19) ; chr17:g.7220980G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220980G>T , CM000679.2:g.7220980G>T	GRCh38
NC_000017.10:g.7124299G>T , CM000679.1:g.7124299G>T	GRCh37
NC_000017.9:g.7065023G>T	NCBI36
NG_007975.1:g.6147G>T
NG_008391.2:g.4071C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.399G>T MANE Select	ENSP00000349297.5:p.Trp133Cys
ENST00000322910.9:c.*354G>T	ENSP00000325395.5:n.*354G>T
ENST00000350303.9:c.333G>T	ENSP00000344152.5:p.Trp111Cys
ENST00000356839.9:c.399G>T	ENSP00000349297.5:p.Trp133Cys
ENST00000543245.6:c.468G>T	ENSP00000438689.2:p.Trp156Cys
ENST00000577191.5:n.476G>T
ENST00000577433.5:n.607G>T
ENST00000577857.5:n.293+150G>T
ENST00000579286.5:n.580G>T
ENST00000579886.2:c.237G>T	ENSP00000463246.1:p.Trp79Cys
ENST00000580365.1:n.130G>T
ENST00000581378.5:c.98G>T
ENST00000581562.5:n.446G>T
ENST00000582056.5:n.582G>T
ENST00000582166.1:n.380G>T
ENST00000583312.5:c.399G>T	ENSP00000467920.1:p.Trp133Cys
ENST00000584103.5:c.432G>T	ENSP00000465353.1:p.Trp144Cys
NM_000018.3:c.399G>T	NP_000009.1:p.Trp133Cys
NM_001033859.2:c.333G>T	NP_001029031.1:p.Trp111Cys
NM_001270447.1:c.468G>T	NP_001257376.1:p.Trp156Cys
NM_001270448.1:c.171G>T	NP_001257377.1:p.Trp57Cys
XM_006721516.2:c.399G>T	XP_006721579.2:p.Trp133Cys
XM_011523829.1:c.399G>T	XP_011522131.1:p.Trp133Cys
XM_011523830.1:c.399G>T	XP_011522132.1:p.Trp133Cys
XR_934021.1:n.506G>T
XR_934022.1:n.506G>T
XR_934023.1:n.506G>T
XM_006721516.3:c.399G>T	XP_006721579.2:p.Trp133Cys
XM_011523829.2:c.399G>T	XP_011522131.1:p.Trp133Cys
XM_011523830.2:c.399G>T	XP_011522132.1:p.Trp133Cys
XM_024450741.1:c.399G>T	XP_024306509.1:p.Trp133Cys
XR_934021.2:n.458G>T
XR_934022.2:n.458G>T
XR_934023.2:n.458G>T
NM_000018.4:c.399G>T MANE Select	NP_000009.1:p.Trp133Cys
NM_001033859.3:c.333G>T	NP_001029031.1:p.Trp111Cys
NM_001270447.2:c.468G>T	NP_001257376.1:p.Trp156Cys
NM_001270448.2:c.171G>T	NP_001257377.1:p.Trp57Cys