Canonical Allele Identifier: CA397724811

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127161C>G (hg19) ; chr17:g.7223842C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223842C>G , CM000679.2:g.7223842C>G	GRCh38
NC_000017.10:g.7127161C>G , CM000679.1:g.7127161C>G	GRCh37
NC_000017.9:g.7067885C>G	NCBI36
NG_007975.1:g.9009C>G
NG_008391.2:g.1209G>C
NG_033038.1:g.15703G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1299C>G MANE Select	ENSP00000349297.5:p.Cys433Trp
ENST00000322910.9:c.*1254C>G	ENSP00000325395.5:n.*1254C>G
ENST00000350303.9:c.1233C>G	ENSP00000344152.5:p.Cys411Trp
ENST00000356839.9:c.1299C>G	ENSP00000349297.5:p.Cys433Trp
ENST00000542255.6:c.157C>G
ENST00000543245.6:c.1368C>G	ENSP00000438689.2:p.Cys456Trp
ENST00000578711.1:n.338C>G
ENST00000578824.5:n.715C>G
ENST00000579425.5:n.323C>G
ENST00000579546.1:c.136C>G
ENST00000583074.5:n.18C>G
ENST00000583850.5:n.74C>G
ENST00000583858.5:c.328C>G
ENST00000585203.6:n.507C>G
NM_000018.3:c.1299C>G	NP_000009.1:p.Cys433Trp
NM_001033859.2:c.1233C>G	NP_001029031.1:p.Cys411Trp
NM_001270447.1:c.1368C>G	NP_001257376.1:p.Cys456Trp
NM_001270448.1:c.1071C>G	NP_001257377.1:p.Cys357Trp
XM_006721516.2:c.1299C>G	XP_006721579.2:p.Cys433Trp
XM_011523829.1:c.1299C>G	XP_011522131.1:p.Cys433Trp
XM_011523830.1:c.1299C>G	XP_011522132.1:p.Cys433Trp
XR_934021.1:n.1406C>G
XR_934022.1:n.1406C>G
XR_934023.1:n.1406C>G
XM_006721516.3:c.1299C>G	XP_006721579.2:p.Cys433Trp
XM_011523829.2:c.1299C>G	XP_011522131.1:p.Cys433Trp
XM_011523830.2:c.1299C>G	XP_011522132.1:p.Cys433Trp
XM_024450741.1:c.1299C>G	XP_024306509.1:p.Cys433Trp
XR_934021.2:n.1358C>G
XR_934022.2:n.1358C>G
XR_934023.2:n.1358C>G
NM_000018.4:c.1299C>G MANE Select	NP_000009.1:p.Cys433Trp
NM_001033859.3:c.1233C>G	NP_001029031.1:p.Cys411Trp
NM_001270447.2:c.1368C>G	NP_001257376.1:p.Cys456Trp
NM_001270448.2:c.1071C>G	NP_001257377.1:p.Cys357Trp