Canonical Allele Identifier: CA8337762

Gene: ACADVL

Linked Data

• dbSNP Id: rs753444680
• ExAC: 17:7124960 C / G
• gnomAD v2: 17-7124960-C-G
• gnomAD v4: 17-7221641-C-G
• MyVariant Identifiers: chr17:g.7124960C>G (hg19) ; chr17:g.7221641C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221641C>G , CM000679.2:g.7221641C>G	GRCh38
NC_000017.10:g.7124960C>G , CM000679.1:g.7124960C>G	GRCh37
NC_000017.9:g.7065684C>G	NCBI36
NG_007975.1:g.6808C>G
NG_008391.2:g.3410G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.581C>G MANE Select	ENSP00000349297.5:p.Thr194Arg
ENST00000322910.9:c.*536C>G	ENSP00000325395.5:n.*536C>G
ENST00000350303.9:c.515C>G	ENSP00000344152.5:p.Thr172Arg
ENST00000356839.9:c.581C>G	ENSP00000349297.5:p.Thr194Arg
ENST00000543245.6:c.650C>G	ENSP00000438689.2:p.Thr217Arg
ENST00000577191.5:n.658C>G
ENST00000577433.5:n.789C>G
ENST00000577857.5:n.397C>G
ENST00000579286.5:n.762C>G
ENST00000579886.2:c.419C>G	ENSP00000463246.1:p.Thr140Arg
ENST00000580365.1:n.312C>G
ENST00000581378.5:c.299C>G
ENST00000581562.5:n.525-311C>G
ENST00000583312.5:c.581C>G	ENSP00000467920.1:p.Thr194Arg
ENST00000583760.1:n.363C>G
NM_000018.3:c.581C>G	NP_000009.1:p.Thr194Arg
NM_001033859.2:c.515C>G	NP_001029031.1:p.Thr172Arg
NM_001270447.1:c.650C>G	NP_001257376.1:p.Thr217Arg
NM_001270448.1:c.353C>G	NP_001257377.1:p.Thr118Arg
XM_006721516.2:c.581C>G	XP_006721579.2:p.Thr194Arg
XM_011523829.1:c.581C>G	XP_011522131.1:p.Thr194Arg
XM_011523830.1:c.581C>G	XP_011522132.1:p.Thr194Arg
XR_934021.1:n.688C>G
XR_934022.1:n.688C>G
XR_934023.1:n.688C>G
XM_006721516.3:c.581C>G	XP_006721579.2:p.Thr194Arg
XM_011523829.2:c.581C>G	XP_011522131.1:p.Thr194Arg
XM_011523830.2:c.581C>G	XP_011522132.1:p.Thr194Arg
XM_024450741.1:c.581C>G	XP_024306509.1:p.Thr194Arg
XR_934021.2:n.640C>G
XR_934022.2:n.640C>G
XR_934023.2:n.640C>G
NM_000018.4:c.581C>G MANE Select	NP_000009.1:p.Thr194Arg
NM_001033859.3:c.515C>G	NP_001029031.1:p.Thr172Arg
NM_001270447.2:c.650C>G	NP_001257376.1:p.Thr217Arg
NM_001270448.2:c.353C>G	NP_001257377.1:p.Thr118Arg