Canonical Allele Identifier: CA16041541
Gene: CPT1A HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.68796900G>A
GRCh37 chr11:g.68564368G>A
gnomAD v2:
11:68564368 G / A
gnomAD v3:
11:68796900 G / A
gnomAD v4:
chr11-68796900-G-A
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000410747
ClinVar Variation:
370429
dbSNP:
779893091
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68796900G>A , CM000673.2:g.68796900G>A GRCh38
NC_000011.9:g.68564368G>A , CM000673.1:g.68564368G>A GRCh37
NC_000011.8:g.68320944G>A NCBI36
NG_011801.1:g.50032C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.727C>T MANE Select ENSP00000265641.4:p.Arg243Ter
ENST00000265641.9:c.727C>T ENSP00000265641.4:p.Arg243Ter
ENST00000376618.6:c.727C>T ENSP00000365803.2:p.Arg243Ter
ENST00000538994.1:c.-18C>T ENSP00000454332.1:n.-18C>T
ENST00000539743.5:c.727C>T ENSP00000446108.1:p.Arg243Ter
ENST00000540367.5:c.727C>T ENSP00000439084.1:p.Arg243Ter
NM_001031847.2:c.727C>T NP_001027017.1:p.Arg243Ter
NM_001876.3:c.727C>T NP_001867.2:p.Arg243Ter
XM_005273762.1:c.823C>T XP_005273819.1:p.Arg275Ter
XM_005273763.1:c.823C>T XP_005273820.1:p.Arg275Ter
XM_005273762.3:c.823C>T XP_005273819.1:p.Arg275Ter
XM_017017220.1:c.727C>T XP_016872709.1:p.Arg243Ter
NM_001876.4:c.727C>T MANE Select NP_001867.2:p.Arg243Ter
NM_001031847.3:c.727C>T NP_001027017.1:p.Arg243Ter
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