Canonical Allele Identifier: CA397723071

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932790
• ClinVar RCV Id: RCV001200735 ; RCV003396813
• dbSNP Id: rs2071227581
• gnomAD v4: 17-7221573-C-G
• MyVariant Identifiers: chr17:g.7124892C>G (hg19) ; chr17:g.7221573C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221573C>G , CM000679.2:g.7221573C>G	GRCh38
NC_000017.10:g.7124892C>G , CM000679.1:g.7124892C>G	GRCh37
NC_000017.9:g.7065616C>G	NCBI36
NG_007975.1:g.6740C>G
NG_008391.2:g.3478G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.513C>G MANE Select	ENSP00000349297.5:p.Asp171Glu
ENST00000322910.9:c.*468C>G	ENSP00000325395.5:n.*468C>G
ENST00000350303.9:c.447C>G	ENSP00000344152.5:p.Asp149Glu
ENST00000356839.9:c.513C>G	ENSP00000349297.5:p.Asp171Glu
ENST00000543245.6:c.582C>G	ENSP00000438689.2:p.Asp194Glu
ENST00000577191.5:n.590C>G
ENST00000577433.5:n.721C>G
ENST00000577857.5:n.329C>G
ENST00000579286.5:n.694C>G
ENST00000579886.2:c.351C>G	ENSP00000463246.1:p.Asp117Glu
ENST00000580365.1:n.244C>G
ENST00000581378.5:c.231C>G
ENST00000581562.5:n.525-379C>G
ENST00000582166.1:n.494C>G
ENST00000583312.5:c.513C>G	ENSP00000467920.1:p.Asp171Glu
ENST00000583760.1:n.295C>G
NM_000018.3:c.513C>G	NP_000009.1:p.Asp171Glu
NM_001033859.2:c.447C>G	NP_001029031.1:p.Asp149Glu
NM_001270447.1:c.582C>G	NP_001257376.1:p.Asp194Glu
NM_001270448.1:c.285C>G	NP_001257377.1:p.Asp95Glu
XM_006721516.2:c.513C>G	XP_006721579.2:p.Asp171Glu
XM_011523829.1:c.513C>G	XP_011522131.1:p.Asp171Glu
XM_011523830.1:c.513C>G	XP_011522132.1:p.Asp171Glu
XR_934021.1:n.620C>G
XR_934022.1:n.620C>G
XR_934023.1:n.620C>G
XM_006721516.3:c.513C>G	XP_006721579.2:p.Asp171Glu
XM_011523829.2:c.513C>G	XP_011522131.1:p.Asp171Glu
XM_011523830.2:c.513C>G	XP_011522132.1:p.Asp171Glu
XM_024450741.1:c.513C>G	XP_024306509.1:p.Asp171Glu
XR_934021.2:n.572C>G
XR_934022.2:n.572C>G
XR_934023.2:n.572C>G
NM_000018.4:c.513C>G MANE Select	NP_000009.1:p.Asp171Glu
NM_001033859.3:c.447C>G	NP_001029031.1:p.Asp149Glu
NM_001270447.2:c.582C>G	NP_001257376.1:p.Asp194Glu
NM_001270448.2:c.285C>G	NP_001257377.1:p.Asp95Glu