Canonical Allele Identifier: CA397724892
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127195G>C (hg19) chr17:g.7223876G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223876G>C , CM000679.2:g.7223876G>C GRCh38
NC_000017.10:g.7127195G>C , CM000679.1:g.7127195G>C GRCh37
NC_000017.9:g.7067919G>C NCBI36
NG_007975.1:g.9043G>C
NG_008391.2:g.1175C>G
NG_033038.1:g.15669C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1332+1G>C MANE Select ENSP00000349297.5:n.1332+1G>C
ENST00000322910.9:c.*1287+1G>C ENSP00000325395.5:n.*1287+1G>C
ENST00000350303.9:c.1266+1G>C ENSP00000344152.5:n.1266+1G>C
ENST00000356839.9:c.1332+1G>C ENSP00000349297.5:n.1332+1G>C
ENST00000542255.6:c.190+1G>C
ENST00000543245.6:c.1401+1G>C ENSP00000438689.2:n.1401+1G>C
ENST00000578711.1:n.372G>C
ENST00000579425.5:n.357G>C
ENST00000579546.1:c.169+1G>C
ENST00000583074.5:n.51+1G>C
ENST00000583850.5:n.107+1G>C
ENST00000583858.5:c.361+1G>C
ENST00000585203.6:n.523+18G>C
NM_000018.3:c.1332+1G>C NP_000009.1:n.1332+1G>C
NM_001033859.2:c.1266+1G>C NP_001029031.1:n.1266+1G>C
NM_001270447.1:c.1401+1G>C NP_001257376.1:n.1401+1G>C
NM_001270448.1:c.1104+1G>C NP_001257377.1:n.1104+1G>C
XM_006721516.2:c.1332+1G>C XP_006721579.2:n.1332+1G>C
XM_011523829.1:c.1332+1G>C XP_011522131.1:n.1332+1G>C
XM_011523830.1:c.1332+1G>C XP_011522132.1:n.1332+1G>C
XR_934021.1:n.1439+1G>C
XR_934022.1:n.1439+1G>C
XR_934023.1:n.1439+1G>C
XM_006721516.3:c.1332+1G>C XP_006721579.2:n.1332+1G>C
XM_011523829.2:c.1332+1G>C XP_011522131.1:n.1332+1G>C
XM_011523830.2:c.1332+1G>C XP_011522132.1:n.1332+1G>C
XM_024450741.1:c.1332+1G>C XP_024306509.1:n.1332+1G>C
XR_934021.2:n.1391+1G>C
XR_934022.2:n.1391+1G>C
XR_934023.2:n.1391+1G>C
NM_000018.4:c.1332+1G>C MANE Select NP_000009.1:n.1332+1G>C
NM_001033859.3:c.1266+1G>C NP_001029031.1:n.1266+1G>C
NM_001270447.2:c.1401+1G>C NP_001257376.1:n.1401+1G>C
NM_001270448.2:c.1104+1G>C NP_001257377.1:n.1104+1G>C
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