Canonical Allele Identifier: CA397723141

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071230479
• gnomAD v4: 17-7221609-C-A
• MyVariant Identifiers: chr17:g.7124928C>A (hg19) ; chr17:g.7221609C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221609C>A , CM000679.2:g.7221609C>A	GRCh38
NC_000017.10:g.7124928C>A , CM000679.1:g.7124928C>A	GRCh37
NC_000017.9:g.7065652C>A	NCBI36
NG_007975.1:g.6776C>A
NG_008391.2:g.3442G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.549C>A MANE Select	ENSP00000349297.5:p.Ser183Arg
ENST00000322910.9:c.*504C>A	ENSP00000325395.5:n.*504C>A
ENST00000350303.9:c.483C>A	ENSP00000344152.5:p.Ser161Arg
ENST00000356839.9:c.549C>A	ENSP00000349297.5:p.Ser183Arg
ENST00000543245.6:c.618C>A	ENSP00000438689.2:p.Ser206Arg
ENST00000577191.5:n.626C>A
ENST00000577433.5:n.757C>A
ENST00000577857.5:n.365C>A
ENST00000579286.5:n.730C>A
ENST00000579886.2:c.387C>A	ENSP00000463246.1:p.Ser129Arg
ENST00000580365.1:n.280C>A
ENST00000581378.5:c.267C>A
ENST00000581562.5:n.525-343C>A
ENST00000582166.1:n.530C>A
ENST00000583312.5:c.549C>A	ENSP00000467920.1:p.Ser183Arg
ENST00000583760.1:n.331C>A
NM_000018.3:c.549C>A	NP_000009.1:p.Ser183Arg
NM_001033859.2:c.483C>A	NP_001029031.1:p.Ser161Arg
NM_001270447.1:c.618C>A	NP_001257376.1:p.Ser206Arg
NM_001270448.1:c.321C>A	NP_001257377.1:p.Ser107Arg
XM_006721516.2:c.549C>A	XP_006721579.2:p.Ser183Arg
XM_011523829.1:c.549C>A	XP_011522131.1:p.Ser183Arg
XM_011523830.1:c.549C>A	XP_011522132.1:p.Ser183Arg
XR_934021.1:n.656C>A
XR_934022.1:n.656C>A
XR_934023.1:n.656C>A
XM_006721516.3:c.549C>A	XP_006721579.2:p.Ser183Arg
XM_011523829.2:c.549C>A	XP_011522131.1:p.Ser183Arg
XM_011523830.2:c.549C>A	XP_011522132.1:p.Ser183Arg
XM_024450741.1:c.549C>A	XP_024306509.1:p.Ser183Arg
XR_934021.2:n.608C>A
XR_934022.2:n.608C>A
XR_934023.2:n.608C>A
NM_000018.4:c.549C>A MANE Select	NP_000009.1:p.Ser183Arg
NM_001033859.3:c.483C>A	NP_001029031.1:p.Ser161Arg
NM_001270447.2:c.618C>A	NP_001257376.1:p.Ser206Arg
NM_001270448.2:c.321C>A	NP_001257377.1:p.Ser107Arg