Canonical Allele Identifier: CA6152513
Gene: CPT1A HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.68794866C>T
GRCh37 chr11:g.68562334C>T
Revel Score:
ENST00000540367 0.692
ENST00000376618 0.692
ENST00000265641 (MANE Select) 0.692
ENST00000538308 0.692
ENST00000539743 0.692
gnomAD v2:
11:68562334 C / T
gnomAD v3:
11:68794866 C / T
gnomAD v4:
chr11-68794866-C-T
Joint Max Group AF 0.00001376 (NFE)
Exomes Max Group AF 0.00001377 (NFE)
ClinVar RCV:
RCV003068842
ClinVar Variation:
2148517
dbSNP:
144347513
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68794866C>T , CM000673.2:g.68794866C>T GRCh38
NC_000011.9:g.68562334C>T , CM000673.1:g.68562334C>T GRCh37
NC_000011.8:g.68318910C>T NCBI36
NG_011801.1:g.52066G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.817G>A MANE Select ENSP00000265641.4:p.Gly273Ser
ENST00000265641.9:c.817G>A ENSP00000265641.4:p.Gly273Ser
ENST00000376618.6:c.817G>A ENSP00000365803.2:p.Gly273Ser
ENST00000538994.1:c.73G>A ENSP00000454332.1:p.Gly25Ser
ENST00000539743.5:c.817G>A ENSP00000446108.1:p.Gly273Ser
ENST00000540367.5:c.817G>A ENSP00000439084.1:p.Gly273Ser
NM_001031847.2:c.817G>A NP_001027017.1:p.Gly273Ser
NM_001876.3:c.817G>A NP_001867.2:p.Gly273Ser
XM_005273762.1:c.913G>A XP_005273819.1:p.Gly305Ser
XM_005273763.1:c.913G>A XP_005273820.1:p.Gly305Ser
XM_005273762.3:c.913G>A XP_005273819.1:p.Gly305Ser
XM_017017220.1:c.817G>A XP_016872709.1:p.Gly273Ser
NM_001876.4:c.817G>A MANE Select NP_001867.2:p.Gly273Ser
NM_001031847.3:c.817G>A NP_001027017.1:p.Gly273Ser
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