Canonical Allele Identifier: CA8338047

Gene: ACADVL

Linked Data

• dbSNP Id: rs762137401
• ExAC: 17:7127044 G / A
• gnomAD v2: 17-7127044-G-A
• gnomAD v4: 17-7223725-G-A
• MyVariant Identifiers: chr17:g.7127044G>A (hg19) ; chr17:g.7223725G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223725G>A , CM000679.2:g.7223725G>A	GRCh38
NC_000017.10:g.7127044G>A , CM000679.1:g.7127044G>A	GRCh37
NC_000017.9:g.7067768G>A	NCBI36
NG_007975.1:g.8892G>A
NG_008391.2:g.1326C>T
NG_033038.1:g.15820C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1264G>A MANE Select	ENSP00000349297.5:p.Gly422Ser
ENST00000322910.9:c.*1219G>A	ENSP00000325395.5:n.*1219G>A
ENST00000350303.9:c.1198G>A	ENSP00000344152.5:p.Gly400Ser
ENST00000356839.9:c.1264G>A	ENSP00000349297.5:p.Gly422Ser
ENST00000542255.6:c.122G>A
ENST00000543245.6:c.1333G>A	ENSP00000438689.2:p.Gly445Ser
ENST00000578579.2:n.435G>A
ENST00000578711.1:n.221G>A
ENST00000578824.5:n.680G>A
ENST00000579425.5:n.288G>A
ENST00000579546.1:c.101G>A
ENST00000583850.5:n.39G>A
ENST00000583858.5:c.293G>A
ENST00000585203.6:n.472G>A
NM_000018.3:c.1264G>A	NP_000009.1:p.Gly422Ser
NM_001033859.2:c.1198G>A	NP_001029031.1:p.Gly400Ser
NM_001270447.1:c.1333G>A	NP_001257376.1:p.Gly445Ser
NM_001270448.1:c.1036G>A	NP_001257377.1:p.Gly346Ser
XM_006721516.2:c.1264G>A	XP_006721579.2:p.Gly422Ser
XM_011523829.1:c.1264G>A	XP_011522131.1:p.Gly422Ser
XM_011523830.1:c.1264G>A	XP_011522132.1:p.Gly422Ser
XR_934021.1:n.1371G>A
XR_934022.1:n.1371G>A
XR_934023.1:n.1371G>A
XM_006721516.3:c.1264G>A	XP_006721579.2:p.Gly422Ser
XM_011523829.2:c.1264G>A	XP_011522131.1:p.Gly422Ser
XM_011523830.2:c.1264G>A	XP_011522132.1:p.Gly422Ser
XM_024450741.1:c.1264G>A	XP_024306509.1:p.Gly422Ser
XR_934021.2:n.1323G>A
XR_934022.2:n.1323G>A
XR_934023.2:n.1323G>A
NM_000018.4:c.1264G>A MANE Select	NP_000009.1:p.Gly422Ser
NM_001033859.3:c.1198G>A	NP_001029031.1:p.Gly400Ser
NM_001270447.2:c.1333G>A	NP_001257376.1:p.Gly445Ser
NM_001270448.2:c.1036G>A	NP_001257377.1:p.Gly346Ser