Canonical Allele Identifier: CA1001798131
Gene: CPT2 HGNC NCBI

Linked Data

gnomAD v3: 1-53196598-C-T
gnomAD v4: 1-53196598-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196598C>T , CM000663.2:g.53196598C>T GRCh38
NC_000001.10:g.53662270C>T , CM000663.1:g.53662270C>T GRCh37
NC_000001.9:g.53434858C>T NCBI36
NG_008035.1:g.5170C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-346C>T ENSP00000360541.3:n.-346C>T
NM_000098.2:c.-346C>T NP_000089.1:n.-346C>T
NM_001330589.1:c.-346C>T NP_001317518.1:n.-346C>T
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