Canonical Allele Identifier: CA8337805

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1429138
• ClinVar RCV Id: RCV001938779 ; RCV003416627
• dbSNP Id: rs767063791
• ExAC: 17:7125309 A / G
• gnomAD v2: 17-7125309-A-G
• gnomAD v3: 17-7221990-A-G
• gnomAD v4: 17-7221990-A-G
• MyVariant Identifiers: chr17:g.7125309A>G (hg19) ; chr17:g.7221990A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221990A>G , CM000679.2:g.7221990A>G	GRCh38
NC_000017.10:g.7125309A>G , CM000679.1:g.7125309A>G	GRCh37
NC_000017.9:g.7066033A>G	NCBI36
NG_007975.1:g.7157A>G
NG_008391.2:g.3061T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.661A>G MANE Select	ENSP00000349297.5:p.Ser221Gly
ENST00000322910.9:c.*616A>G	ENSP00000325395.5:n.*616A>G
ENST00000350303.9:c.595A>G	ENSP00000344152.5:p.Ser199Gly
ENST00000356839.9:c.661A>G	ENSP00000349297.5:p.Ser221Gly
ENST00000543245.6:c.730A>G	ENSP00000438689.2:p.Ser244Gly
ENST00000577191.5:n.738A>G
ENST00000577857.5:n.477A>G
ENST00000579286.5:n.842A>G
ENST00000580365.1:n.392A>G
ENST00000581378.5:c.379A>G
ENST00000581562.5:n.563A>G
ENST00000582379.1:n.45A>G
ENST00000583760.1:n.443A>G
NM_000018.3:c.661A>G	NP_000009.1:p.Ser221Gly
NM_001033859.2:c.595A>G	NP_001029031.1:p.Ser199Gly
NM_001270447.1:c.730A>G	NP_001257376.1:p.Ser244Gly
NM_001270448.1:c.433A>G	NP_001257377.1:p.Ser145Gly
XM_006721516.2:c.661A>G	XP_006721579.2:p.Ser221Gly
XM_011523829.1:c.661A>G	XP_011522131.1:p.Ser221Gly
XM_011523830.1:c.661A>G	XP_011522132.1:p.Ser221Gly
XR_934021.1:n.768A>G
XR_934022.1:n.768A>G
XR_934023.1:n.768A>G
XM_006721516.3:c.661A>G	XP_006721579.2:p.Ser221Gly
XM_011523829.2:c.661A>G	XP_011522131.1:p.Ser221Gly
XM_011523830.2:c.661A>G	XP_011522132.1:p.Ser221Gly
XM_024450741.1:c.661A>G	XP_024306509.1:p.Ser221Gly
XR_934021.2:n.720A>G
XR_934022.2:n.720A>G
XR_934023.2:n.720A>G
NM_000018.4:c.661A>G MANE Select	NP_000009.1:p.Ser221Gly
NM_001033859.3:c.595A>G	NP_001029031.1:p.Ser199Gly
NM_001270447.2:c.730A>G	NP_001257376.1:p.Ser244Gly
NM_001270448.2:c.433A>G	NP_001257377.1:p.Ser145Gly