Canonical Allele Identifier: CA8337796

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1535823
• ClinVar RCV Id: RCV002077964
• dbSNP Id: rs777866869
• ExAC: 17:7125253 T / C
• gnomAD v2: 17-7125253-T-C
• gnomAD v3: 17-7221934-T-C
• gnomAD v4: 17-7221934-T-C
• MyVariant Identifiers: chr17:g.7125253T>C (hg19) ; chr17:g.7221934T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221934T>C , CM000679.2:g.7221934T>C	GRCh38
NC_000017.10:g.7125253T>C , CM000679.1:g.7125253T>C	GRCh37
NC_000017.9:g.7065977T>C	NCBI36
NG_007975.1:g.7101T>C
NG_008391.2:g.3117A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.623-18T>C MANE Select	ENSP00000349297.5:n.623-18T>C
ENST00000322910.9:c.*578-18T>C	ENSP00000325395.5:n.*578-18T>C
ENST00000350303.9:c.557-18T>C	ENSP00000344152.5:n.557-18T>C
ENST00000356839.9:c.623-18T>C	ENSP00000349297.5:n.623-18T>C
ENST00000543245.6:c.692-18T>C	ENSP00000438689.2:n.692-18T>C
ENST00000577191.5:n.700-18T>C
ENST00000577857.5:n.439-18T>C
ENST00000579286.5:n.804-18T>C
ENST00000579886.2:c.461-18T>C	ENSP00000463246.1:n.461-18T>C
ENST00000580365.1:n.354-18T>C
ENST00000581378.5:c.341-18T>C
ENST00000581562.5:n.525-18T>C
ENST00000583312.5:c.623-3T>C	ENSP00000467920.1:n.623-3T>C
ENST00000583760.1:n.405-18T>C
NM_000018.3:c.623-18T>C	NP_000009.1:n.623-18T>C
NM_001033859.2:c.557-18T>C	NP_001029031.1:n.557-18T>C
NM_001270447.1:c.692-18T>C	NP_001257376.1:n.692-18T>C
NM_001270448.1:c.395-18T>C	NP_001257377.1:n.395-18T>C
XM_006721516.2:c.623-18T>C	XP_006721579.2:n.623-18T>C
XM_011523829.1:c.623-18T>C	XP_011522131.1:n.623-18T>C
XM_011523830.1:c.623-18T>C	XP_011522132.1:n.623-18T>C
XR_934021.1:n.730-18T>C
XR_934022.1:n.730-18T>C
XR_934023.1:n.730-18T>C
XM_006721516.3:c.623-18T>C	XP_006721579.2:n.623-18T>C
XM_011523829.2:c.623-18T>C	XP_011522131.1:n.623-18T>C
XM_011523830.2:c.623-18T>C	XP_011522132.1:n.623-18T>C
XM_024450741.1:c.623-18T>C	XP_024306509.1:n.623-18T>C
XR_934021.2:n.682-18T>C
XR_934022.2:n.682-18T>C
XR_934023.2:n.682-18T>C
NM_000018.4:c.623-18T>C MANE Select	NP_000009.1:n.623-18T>C
NM_001033859.3:c.557-18T>C	NP_001029031.1:n.557-18T>C
NM_001270447.2:c.692-18T>C	NP_001257376.1:n.692-18T>C
NM_001270448.2:c.395-18T>C	NP_001257377.1:n.395-18T>C