Canonical Allele Identifier: CA397724292
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126181G>C (hg19) chr17:g.7222862G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222862G>C , CM000679.2:g.7222862G>C GRCh38
NC_000017.10:g.7126181G>C , CM000679.1:g.7126181G>C GRCh37
NC_000017.9:g.7066905G>C NCBI36
NG_007975.1:g.8029G>C
NG_008391.2:g.2189C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1074G>C MANE Select ENSP00000349297.5:p.Lys358Asn
ENST00000322910.9:c.*1029G>C ENSP00000325395.5:n.*1029G>C
ENST00000350303.9:c.1008G>C ENSP00000344152.5:p.Lys336Asn
ENST00000356839.9:c.1074G>C ENSP00000349297.5:p.Lys358Asn
ENST00000543245.6:c.1143G>C ENSP00000438689.2:p.Lys381Asn
ENST00000578824.5:n.223G>C
ENST00000582379.1:n.458G>C
ENST00000583858.5:c.103G>C
ENST00000585203.6:n.15G>C
NM_000018.3:c.1074G>C NP_000009.1:p.Lys358Asn
NM_001033859.2:c.1008G>C NP_001029031.1:p.Lys336Asn
NM_001270447.1:c.1143G>C NP_001257376.1:p.Lys381Asn
NM_001270448.1:c.846G>C NP_001257377.1:p.Lys282Asn
XM_006721516.2:c.1074G>C XP_006721579.2:p.Lys358Asn
XM_011523829.1:c.1074G>C XP_011522131.1:p.Lys358Asn
XM_011523830.1:c.1074G>C XP_011522132.1:p.Lys358Asn
XR_934021.1:n.1181G>C
XR_934022.1:n.1181G>C
XR_934023.1:n.1181G>C
XM_006721516.3:c.1074G>C XP_006721579.2:p.Lys358Asn
XM_011523829.2:c.1074G>C XP_011522131.1:p.Lys358Asn
XM_011523830.2:c.1074G>C XP_011522132.1:p.Lys358Asn
XM_024450741.1:c.1074G>C XP_024306509.1:p.Lys358Asn
XR_934021.2:n.1133G>C
XR_934022.2:n.1133G>C
XR_934023.2:n.1133G>C
NM_000018.4:c.1074G>C MANE Select NP_000009.1:p.Lys358Asn
NM_001033859.3:c.1008G>C NP_001029031.1:p.Lys336Asn
NM_001270447.2:c.1143G>C NP_001257376.1:p.Lys381Asn
NM_001270448.2:c.846G>C NP_001257377.1:p.Lys282Asn
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