Canonical Allele Identifier: CA344991
Gene: CPT1A HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.68793336G>C
GRCh37 chr11:g.68560804G>C
Revel Score:
ENST00000540367 0.913
ENST00000376618 0.913
ENST00000265641 (MANE Select) 0.913
ENST00000538308 0.913
ENST00000539743 0.913
gnomAD v2:
11:68560804 G / C
gnomAD v3:
11:68793336 G / C
gnomAD v4:
chr11-68793336-G-C
Joint Max Group AF 0.00000555 (AMR)
ClinVar RCV:
RCV000055872
RCV000298507
ClinVar Variation:
65659
dbSNP:
80356796
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.946C>G MANE Select ENSP00000265641.4:p.Arg316Gly
ENST00000265641.9:c.946C>G ENSP00000265641.4:p.Arg316Gly
ENST00000376618.6:c.946C>G ENSP00000365803.2:p.Arg316Gly
ENST00000538994.1:c.202C>G ENSP00000454332.1:p.Arg68Gly
ENST00000539743.5:c.946C>G ENSP00000446108.1:p.Arg316Gly
ENST00000540367.5:c.946C>G ENSP00000439084.1:p.Arg316Gly
NM_001031847.2:c.946C>G NP_001027017.1:p.Arg316Gly
NM_001876.3:c.946C>G NP_001867.2:p.Arg316Gly
XM_005273762.1:c.1042C>G XP_005273819.1:p.Arg348Gly
XM_005273763.1:c.1042C>G XP_005273820.1:p.Arg348Gly
XM_005273762.3:c.1042C>G XP_005273819.1:p.Arg348Gly
XM_017017220.1:c.946C>G XP_016872709.1:p.Arg316Gly
NM_001876.4:c.946C>G MANE Select NP_001867.2:p.Arg316Gly
NM_001031847.3:c.946C>G NP_001027017.1:p.Arg316Gly
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