Canonical Allele Identifier: CA397723203

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 432108
• ClinVar RCV Id: RCV000498240 ; RCV000673457
• dbSNP Id: rs1220348903
• gnomAD v4: 17-7221638-G-A
• MyVariant Identifiers: chr17:g.7124957G>A (hg19) ; chr17:g.7221638G>A (hg38)
• ERepo: CA397723203/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221638G>A , CM000679.2:g.7221638G>A	GRCh38
NC_000017.10:g.7124957G>A , CM000679.1:g.7124957G>A	GRCh37
NC_000017.9:g.7065681G>A	NCBI36
NG_007975.1:g.6805G>A
NG_008391.2:g.3413C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.578G>A MANE Select	ENSP00000349297.5:p.Gly193Asp
ENST00000322910.9:c.*533G>A	ENSP00000325395.5:n.*533G>A
ENST00000350303.9:c.512G>A	ENSP00000344152.5:p.Gly171Asp
ENST00000356839.9:c.578G>A	ENSP00000349297.5:p.Gly193Asp
ENST00000543245.6:c.647G>A	ENSP00000438689.2:p.Gly216Asp
ENST00000577191.5:n.655G>A
ENST00000577433.5:n.786G>A
ENST00000577857.5:n.394G>A
ENST00000579286.5:n.759G>A
ENST00000579886.2:c.416G>A	ENSP00000463246.1:p.Gly139Asp
ENST00000580365.1:n.309G>A
ENST00000581378.5:c.296G>A
ENST00000581562.5:n.525-314G>A
ENST00000583312.5:c.578G>A	ENSP00000467920.1:p.Gly193Asp
ENST00000583760.1:n.360G>A
NM_000018.3:c.578G>A	NP_000009.1:p.Gly193Asp
NM_001033859.2:c.512G>A	NP_001029031.1:p.Gly171Asp
NM_001270447.1:c.647G>A	NP_001257376.1:p.Gly216Asp
NM_001270448.1:c.350G>A	NP_001257377.1:p.Gly117Asp
XM_006721516.2:c.578G>A	XP_006721579.2:p.Gly193Asp
XM_011523829.1:c.578G>A	XP_011522131.1:p.Gly193Asp
XM_011523830.1:c.578G>A	XP_011522132.1:p.Gly193Asp
XR_934021.1:n.685G>A
XR_934022.1:n.685G>A
XR_934023.1:n.685G>A
XM_006721516.3:c.578G>A	XP_006721579.2:p.Gly193Asp
XM_011523829.2:c.578G>A	XP_011522131.1:p.Gly193Asp
XM_011523830.2:c.578G>A	XP_011522132.1:p.Gly193Asp
XM_024450741.1:c.578G>A	XP_024306509.1:p.Gly193Asp
XR_934021.2:n.637G>A
XR_934022.2:n.637G>A
XR_934023.2:n.637G>A
NM_000018.4:c.578G>A MANE Select	NP_000009.1:p.Gly193Asp
NM_001033859.3:c.512G>A	NP_001029031.1:p.Gly171Asp
NM_001270447.2:c.647G>A	NP_001257376.1:p.Gly216Asp
NM_001270448.2:c.350G>A	NP_001257377.1:p.Gly117Asp