Canonical Allele Identifier: CA246508

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 198026
• ClinVar RCV Id: RCV000179232 ; RCV001337172
• dbSNP Id: rs794727772
• MyVariant Identifiers: chr17:g.7124355G>A (hg19) ; chr17:g.7221036G>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221036G>A , CM000679.2:g.7221036G>A	GRCh38
NC_000017.10:g.7124355G>A , CM000679.1:g.7124355G>A	GRCh37
NC_000017.9:g.7065079G>A	NCBI36
NG_007975.1:g.6203G>A
NG_008391.2:g.4015C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.455G>A MANE Select	ENSP00000349297.5:p.Gly152Asp
ENST00000322910.9:c.*410G>A	ENSP00000325395.5:n.*410G>A
ENST00000350303.9:c.389G>A	ENSP00000344152.5:p.Gly130Asp
ENST00000356839.9:c.455G>A	ENSP00000349297.5:p.Gly152Asp
ENST00000543245.6:c.524G>A	ENSP00000438689.2:p.Gly175Asp
ENST00000577191.5:n.532G>A
ENST00000577433.5:n.663G>A
ENST00000577857.5:n.293+206G>A
ENST00000579286.5:n.636G>A
ENST00000579886.2:c.293G>A	ENSP00000463246.1:p.Gly98Asp
ENST00000580365.1:n.186G>A
ENST00000581378.5:c.154G>A
ENST00000581562.5:n.502G>A
ENST00000582056.5:n.638G>A
ENST00000582166.1:n.436G>A
ENST00000583312.5:c.455G>A	ENSP00000467920.1:p.Gly152Asp
NM_000018.3:c.455G>A	NP_000009.1:p.Gly152Asp
NM_001033859.2:c.389G>A	NP_001029031.1:p.Gly130Asp
NM_001270447.1:c.524G>A	NP_001257376.1:p.Gly175Asp
NM_001270448.1:c.227G>A	NP_001257377.1:p.Gly76Asp
XM_006721516.2:c.455G>A	XP_006721579.2:p.Gly152Asp
XM_011523829.1:c.455G>A	XP_011522131.1:p.Gly152Asp
XM_011523830.1:c.455G>A	XP_011522132.1:p.Gly152Asp
XR_934021.1:n.562G>A
XR_934022.1:n.562G>A
XR_934023.1:n.562G>A
XM_006721516.3:c.455G>A	XP_006721579.2:p.Gly152Asp
XM_011523829.2:c.455G>A	XP_011522131.1:p.Gly152Asp
XM_011523830.2:c.455G>A	XP_011522132.1:p.Gly152Asp
XM_024450741.1:c.455G>A	XP_024306509.1:p.Gly152Asp
XR_934021.2:n.514G>A
XR_934022.2:n.514G>A
XR_934023.2:n.514G>A
NM_000018.4:c.455G>A MANE Select	NP_000009.1:p.Gly152Asp
NM_001033859.3:c.389G>A	NP_001029031.1:p.Gly130Asp
NM_001270447.2:c.524G>A	NP_001257376.1:p.Gly175Asp
NM_001270448.2:c.227G>A	NP_001257377.1:p.Gly76Asp