Canonical Allele Identifier: CA397724219

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7126146G>T (hg19) ; chr17:g.7222827G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222827G>T , CM000679.2:g.7222827G>T	GRCh38
NC_000017.10:g.7126146G>T , CM000679.1:g.7126146G>T	GRCh37
NC_000017.9:g.7066870G>T	NCBI36
NG_007975.1:g.7994G>T
NG_008391.2:g.2224C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1039G>T MANE Select	ENSP00000349297.5:p.Ala347Ser
ENST00000322910.9:c.*994G>T	ENSP00000325395.5:n.*994G>T
ENST00000350303.9:c.973G>T	ENSP00000344152.5:p.Ala325Ser
ENST00000356839.9:c.1039G>T	ENSP00000349297.5:p.Ala347Ser
ENST00000543245.6:c.1108G>T	ENSP00000438689.2:p.Ala370Ser
ENST00000578824.5:n.188G>T
ENST00000582379.1:n.423G>T
ENST00000583858.5:c.68G>T
NM_000018.3:c.1039G>T	NP_000009.1:p.Ala347Ser
NM_001033859.2:c.973G>T	NP_001029031.1:p.Ala325Ser
NM_001270447.1:c.1108G>T	NP_001257376.1:p.Ala370Ser
NM_001270448.1:c.811G>T	NP_001257377.1:p.Ala271Ser
XM_006721516.2:c.1039G>T	XP_006721579.2:p.Ala347Ser
XM_011523829.1:c.1039G>T	XP_011522131.1:p.Ala347Ser
XM_011523830.1:c.1039G>T	XP_011522132.1:p.Ala347Ser
XR_934021.1:n.1146G>T
XR_934022.1:n.1146G>T
XR_934023.1:n.1146G>T
XM_006721516.3:c.1039G>T	XP_006721579.2:p.Ala347Ser
XM_011523829.2:c.1039G>T	XP_011522131.1:p.Ala347Ser
XM_011523830.2:c.1039G>T	XP_011522132.1:p.Ala347Ser
XM_024450741.1:c.1039G>T	XP_024306509.1:p.Ala347Ser
XR_934021.2:n.1098G>T
XR_934022.2:n.1098G>T
XR_934023.2:n.1098G>T
NM_000018.4:c.1039G>T MANE Select	NP_000009.1:p.Ala347Ser
NM_001033859.3:c.973G>T	NP_001029031.1:p.Ala325Ser
NM_001270447.2:c.1108G>T	NP_001257376.1:p.Ala370Ser
NM_001270448.2:c.811G>T	NP_001257377.1:p.Ala271Ser