Canonical Allele Identifier: CA397724850

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 960095
• ClinVar RCV Id: RCV001233556
• dbSNP Id: rs2071346311
• MyVariant Identifiers: chr17:g.7127177G>T (hg19) ; chr17:g.7223858G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223858G>T , CM000679.2:g.7223858G>T	GRCh38
NC_000017.10:g.7127177G>T , CM000679.1:g.7127177G>T	GRCh37
NC_000017.9:g.7067901G>T	NCBI36
NG_007975.1:g.9025G>T
NG_008391.2:g.1193C>A
NG_033038.1:g.15687C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1315G>T MANE Select	ENSP00000349297.5:p.Gly439Cys
ENST00000322910.9:c.*1270G>T	ENSP00000325395.5:n.*1270G>T
ENST00000350303.9:c.1249G>T	ENSP00000344152.5:p.Gly417Cys
ENST00000356839.9:c.1315G>T	ENSP00000349297.5:p.Gly439Cys
ENST00000542255.6:c.173G>T
ENST00000543245.6:c.1384G>T	ENSP00000438689.2:p.Gly462Cys
ENST00000578711.1:n.354G>T
ENST00000579425.5:n.339G>T
ENST00000579546.1:c.152G>T
ENST00000583074.5:n.34G>T
ENST00000583850.5:n.90G>T
ENST00000583858.5:c.344G>T
ENST00000585203.6:n.523G>T
NM_000018.3:c.1315G>T	NP_000009.1:p.Gly439Cys
NM_001033859.2:c.1249G>T	NP_001029031.1:p.Gly417Cys
NM_001270447.1:c.1384G>T	NP_001257376.1:p.Gly462Cys
NM_001270448.1:c.1087G>T	NP_001257377.1:p.Gly363Cys
XM_006721516.2:c.1315G>T	XP_006721579.2:p.Gly439Cys
XM_011523829.1:c.1315G>T	XP_011522131.1:p.Gly439Cys
XM_011523830.1:c.1315G>T	XP_011522132.1:p.Gly439Cys
XR_934021.1:n.1422G>T
XR_934022.1:n.1422G>T
XR_934023.1:n.1422G>T
XM_006721516.3:c.1315G>T	XP_006721579.2:p.Gly439Cys
XM_011523829.2:c.1315G>T	XP_011522131.1:p.Gly439Cys
XM_011523830.2:c.1315G>T	XP_011522132.1:p.Gly439Cys
XM_024450741.1:c.1315G>T	XP_024306509.1:p.Gly439Cys
XR_934021.2:n.1374G>T
XR_934022.2:n.1374G>T
XR_934023.2:n.1374G>T
NM_000018.4:c.1315G>T MANE Select	NP_000009.1:p.Gly439Cys
NM_001033859.3:c.1249G>T	NP_001029031.1:p.Gly417Cys
NM_001270447.2:c.1384G>T	NP_001257376.1:p.Gly462Cys
NM_001270448.2:c.1087G>T	NP_001257377.1:p.Gly363Cys