Canonical Allele Identifier: CA2245710186
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2071303199
gnomAD v4: 17-7222949-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222949C>T , CM000679.2:g.7222949C>T GRCh38
NC_000017.10:g.7126268C>T , CM000679.1:g.7126268C>T GRCh37
NC_000017.9:g.7066992C>T NCBI36
NG_007975.1:g.8116C>T
NG_008391.2:g.2102G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1077+84C>T MANE Select ENSP00000349297.5:n.1077+84C>T
ENST00000322910.9:c.*1032+84C>T ENSP00000325395.5:n.*1032+84C>T
ENST00000350303.9:c.1011+84C>T ENSP00000344152.5:n.1011+84C>T
ENST00000356839.9:c.1077+84C>T ENSP00000349297.5:n.1077+84C>T
ENST00000543245.6:c.1146+84C>T ENSP00000438689.2:n.1146+84C>T
ENST00000578824.5:n.310C>T
ENST00000582379.1:n.545C>T
ENST00000583858.5:c.106+84C>T
ENST00000585203.6:n.102C>T
NM_000018.3:c.1077+84C>T NP_000009.1:n.1077+84C>T
NM_001033859.2:c.1011+84C>T NP_001029031.1:n.1011+84C>T
NM_001270447.1:c.1146+84C>T NP_001257376.1:n.1146+84C>T
NM_001270448.1:c.849+84C>T NP_001257377.1:n.849+84C>T
XM_006721516.2:c.1077+84C>T XP_006721579.2:n.1077+84C>T
XM_011523829.1:c.1077+84C>T XP_011522131.1:n.1077+84C>T
XM_011523830.1:c.1077+84C>T XP_011522132.1:n.1077+84C>T
XR_934021.1:n.1184+84C>T
XR_934022.1:n.1184+84C>T
XR_934023.1:n.1184+84C>T
XM_006721516.3:c.1077+84C>T XP_006721579.2:n.1077+84C>T
XM_011523829.2:c.1077+84C>T XP_011522131.1:n.1077+84C>T
XM_011523830.2:c.1077+84C>T XP_011522132.1:n.1077+84C>T
XM_024450741.1:c.1077+84C>T XP_024306509.1:n.1077+84C>T
XR_934021.2:n.1136+84C>T
XR_934022.2:n.1136+84C>T
XR_934023.2:n.1136+84C>T
NM_000018.4:c.1077+84C>T MANE Select NP_000009.1:n.1077+84C>T
NM_001033859.3:c.1011+84C>T NP_001029031.1:n.1011+84C>T
NM_001270447.2:c.1146+84C>T NP_001257376.1:n.1146+84C>T
NM_001270448.2:c.849+84C>T NP_001257377.1:n.849+84C>T
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