Canonical Allele Identifier: CA381634181
Gene: CPT1A HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.68793336G>A
GRCh37 chr11:g.68560804G>A
Revel Score:
ENST00000540367 0.913
ENST00000376618 0.913
ENST00000265641 (MANE Select) 0.913
ENST00000538308 0.913
ENST00000539743 0.913
gnomAD v2:
11:68560804 G / A
gnomAD v3:
11:68793336 G / A
gnomAD v4:
chr11-68793336-G-A
Joint Max Group AF 0.00000444 (AFR)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV005239877
ClinVar Variation:
3769146
dbSNP:
80356796
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68793336G>A , CM000673.2:g.68793336G>A GRCh38
NC_000011.9:g.68560804G>A , CM000673.1:g.68560804G>A GRCh37
NC_000011.8:g.68317380G>A NCBI36
NG_011801.1:g.53596C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.946C>T MANE Select ENSP00000265641.4:p.Arg316Trp
ENST00000265641.9:c.946C>T ENSP00000265641.4:p.Arg316Trp
ENST00000376618.6:c.946C>T ENSP00000365803.2:p.Arg316Trp
ENST00000538994.1:c.202C>T ENSP00000454332.1:p.Arg68Trp
ENST00000539743.5:c.946C>T ENSP00000446108.1:p.Arg316Trp
ENST00000540367.5:c.946C>T ENSP00000439084.1:p.Arg316Trp
NM_001031847.2:c.946C>T NP_001027017.1:p.Arg316Trp
NM_001876.3:c.946C>T NP_001867.2:p.Arg316Trp
XM_005273762.1:c.1042C>T XP_005273819.1:p.Arg348Trp
XM_005273763.1:c.1042C>T XP_005273820.1:p.Arg348Trp
XM_005273762.3:c.1042C>T XP_005273819.1:p.Arg348Trp
XM_017017220.1:c.946C>T XP_016872709.1:p.Arg316Trp
NM_001876.4:c.946C>T MANE Select NP_001867.2:p.Arg316Trp
NM_001031847.3:c.946C>T NP_001027017.1:p.Arg316Trp
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