Canonical Allele Identifier: CA2245712141
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs763213941
gnomAD v4: 17-7223879-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223879C>T , CM000679.2:g.7223879C>T GRCh38
NC_000017.10:g.7127198C>T , CM000679.1:g.7127198C>T GRCh37
NC_000017.9:g.7067922C>T NCBI36
NG_007975.1:g.9046C>T
NG_008391.2:g.1172G>A
NG_033038.1:g.15666G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1332+4C>T MANE Select ENSP00000349297.5:n.1332+4C>T
ENST00000322910.9:c.*1287+4C>T ENSP00000325395.5:n.*1287+4C>T
ENST00000350303.9:c.1266+4C>T ENSP00000344152.5:n.1266+4C>T
ENST00000356839.9:c.1332+4C>T ENSP00000349297.5:n.1332+4C>T
ENST00000542255.6:c.190+4C>T
ENST00000543245.6:c.1401+4C>T ENSP00000438689.2:n.1401+4C>T
ENST00000578711.1:n.375C>T
ENST00000579425.5:n.360C>T
ENST00000579546.1:c.169+4C>T
ENST00000583074.5:n.51+4C>T
ENST00000583850.5:n.107+4C>T
ENST00000583858.5:c.361+4C>T
ENST00000585203.6:n.523+21C>T
NM_000018.3:c.1332+4C>T NP_000009.1:n.1332+4C>T
NM_001033859.2:c.1266+4C>T NP_001029031.1:n.1266+4C>T
NM_001270447.1:c.1401+4C>T NP_001257376.1:n.1401+4C>T
NM_001270448.1:c.1104+4C>T NP_001257377.1:n.1104+4C>T
XM_006721516.2:c.1332+4C>T XP_006721579.2:n.1332+4C>T
XM_011523829.1:c.1332+4C>T XP_011522131.1:n.1332+4C>T
XM_011523830.1:c.1332+4C>T XP_011522132.1:n.1332+4C>T
XR_934021.1:n.1439+4C>T
XR_934022.1:n.1439+4C>T
XR_934023.1:n.1439+4C>T
XM_006721516.3:c.1332+4C>T XP_006721579.2:n.1332+4C>T
XM_011523829.2:c.1332+4C>T XP_011522131.1:n.1332+4C>T
XM_011523830.2:c.1332+4C>T XP_011522132.1:n.1332+4C>T
XM_024450741.1:c.1332+4C>T XP_024306509.1:n.1332+4C>T
XR_934021.2:n.1391+4C>T
XR_934022.2:n.1391+4C>T
XR_934023.2:n.1391+4C>T
NM_000018.4:c.1332+4C>T MANE Select NP_000009.1:n.1332+4C>T
NM_001033859.3:c.1266+4C>T NP_001029031.1:n.1266+4C>T
NM_001270447.2:c.1401+4C>T NP_001257376.1:n.1401+4C>T
NM_001270448.2:c.1104+4C>T NP_001257377.1:n.1104+4C>T
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