Canonical Allele Identifier: CA8337601

Gene: ACADVL

Linked Data

• dbSNP Id: rs776453042
• ExAC: 17:7123930 A / G
• gnomAD v2: 17-7123930-A-G
• gnomAD v4: 17-7220611-A-G
• MyVariant Identifiers: chr17:g.7123930A>G (hg19) ; chr17:g.7220611A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220611A>G , CM000679.2:g.7220611A>G	GRCh38
NC_000017.10:g.7123930A>G , CM000679.1:g.7123930A>G	GRCh37
NC_000017.9:g.7064654A>G	NCBI36
NG_007975.1:g.5778A>G
NG_008391.2:g.4440T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.212A>G MANE Select	ENSP00000349297.5:p.Lys71Arg
ENST00000322910.9:c.*167A>G	ENSP00000325395.5:n.*167A>G
ENST00000350303.9:c.146A>G	ENSP00000344152.5:p.Lys49Arg
ENST00000356839.9:c.212A>G	ENSP00000349297.5:p.Lys71Arg
ENST00000543245.6:c.281A>G	ENSP00000438689.2:p.Lys94Arg
ENST00000577191.5:n.289A>G
ENST00000577433.5:n.420A>G
ENST00000577857.5:n.229-155A>G
ENST00000578269.5:n.659A>G
ENST00000578421.1:n.420A>G
ENST00000579286.5:n.393A>G
ENST00000579886.2:c.201+85A>G	ENSP00000463246.1:n.201+85A>G
ENST00000580263.5:n.376A>G
ENST00000581562.5:n.259A>G
ENST00000582056.5:n.302A>G
ENST00000582166.1:n.100A>G
ENST00000582356.5:n.411A>G
ENST00000583312.5:c.212A>G	ENSP00000467920.1:p.Lys71Arg
ENST00000584103.5:c.212A>G	ENSP00000465353.1:p.Lys71Arg
NM_000018.3:c.212A>G	NP_000009.1:p.Lys71Arg
NM_001033859.2:c.146A>G	NP_001029031.1:p.Lys49Arg
NM_001270447.1:c.281A>G	NP_001257376.1:p.Lys94Arg
NM_001270448.1:c.-17A>G	NP_001257377.1:n.-17A>G
XM_006721516.2:c.212A>G	XP_006721579.2:p.Lys71Arg
XM_011523829.1:c.212A>G	XP_011522131.1:p.Lys71Arg
XM_011523830.1:c.212A>G	XP_011522132.1:p.Lys71Arg
XR_934021.1:n.319A>G
XR_934022.1:n.319A>G
XR_934023.1:n.319A>G
XM_006721516.3:c.212A>G	XP_006721579.2:p.Lys71Arg
XM_011523829.2:c.212A>G	XP_011522131.1:p.Lys71Arg
XM_011523830.2:c.212A>G	XP_011522132.1:p.Lys71Arg
XM_024450741.1:c.212A>G	XP_024306509.1:p.Lys71Arg
XR_934021.2:n.271A>G
XR_934022.2:n.271A>G
XR_934023.2:n.271A>G
NM_000018.4:c.212A>G MANE Select	NP_000009.1:p.Lys71Arg
NM_001033859.3:c.146A>G	NP_001029031.1:p.Lys49Arg
NM_001270447.2:c.281A>G	NP_001257376.1:p.Lys94Arg
NM_001270448.2:c.-17A>G	NP_001257377.1:n.-17A>G