Canonical Allele Identifier: CA2245711197
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2071333391
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223557C>T , CM000679.2:g.7223557C>T GRCh38
NC_000017.10:g.7126876C>T , CM000679.1:g.7126876C>T GRCh37
NC_000017.9:g.7067600C>T NCBI36
NG_007975.1:g.8724C>T
NG_008391.2:g.1494G>A
NG_033038.1:g.15988G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1183-87C>T MANE Select ENSP00000349297.5:n.1183-87C>T
ENST00000322910.9:c.*1138-87C>T ENSP00000325395.5:n.*1138-87C>T
ENST00000350303.9:c.1117-87C>T ENSP00000344152.5:n.1117-87C>T
ENST00000356839.9:c.1183-87C>T ENSP00000349297.5:n.1183-87C>T
ENST00000542255.6:c.41-87C>T
ENST00000543245.6:c.1252-87C>T ENSP00000438689.2:n.1252-87C>T
ENST00000578579.2:n.267C>T
ENST00000578711.1:n.53C>T
ENST00000578824.5:n.599-87C>T
ENST00000579425.5:n.207-87C>T
ENST00000579546.1:c.20-87C>T
ENST00000583858.5:c.212-87C>T
ENST00000585203.6:n.391-87C>T
NM_000018.3:c.1183-87C>T NP_000009.1:n.1183-87C>T
NM_001033859.2:c.1117-87C>T NP_001029031.1:n.1117-87C>T
NM_001270447.1:c.1252-87C>T NP_001257376.1:n.1252-87C>T
NM_001270448.1:c.955-87C>T NP_001257377.1:n.955-87C>T
XM_006721516.2:c.1183-87C>T XP_006721579.2:n.1183-87C>T
XM_011523829.1:c.1183-87C>T XP_011522131.1:n.1183-87C>T
XM_011523830.1:c.1183-87C>T XP_011522132.1:n.1183-87C>T
XR_934021.1:n.1290-87C>T
XR_934022.1:n.1290-87C>T
XR_934023.1:n.1290-87C>T
XM_006721516.3:c.1183-87C>T XP_006721579.2:n.1183-87C>T
XM_011523829.2:c.1183-87C>T XP_011522131.1:n.1183-87C>T
XM_011523830.2:c.1183-87C>T XP_011522132.1:n.1183-87C>T
XM_024450741.1:c.1183-87C>T XP_024306509.1:n.1183-87C>T
XR_934021.2:n.1242-87C>T
XR_934022.2:n.1242-87C>T
XR_934023.2:n.1242-87C>T
NM_000018.4:c.1183-87C>T MANE Select NP_000009.1:n.1183-87C>T
NM_001033859.3:c.1117-87C>T NP_001029031.1:n.1117-87C>T
NM_001270447.2:c.1252-87C>T NP_001257376.1:n.1252-87C>T
NM_001270448.2:c.955-87C>T NP_001257377.1:n.955-87C>T
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