Canonical Allele Identifier: CA349282214
Gene: CYBRD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.172411177T>C (hg19) chr2:g.171554667T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171554667T>C , CM000664.2:g.171554667T>C GRCh38
NC_000002.11:g.172411177T>C , CM000664.1:g.172411177T>C GRCh37
NC_000002.10:g.172119423T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000321348.9:c.701T>C MANE Select ENSP00000319141.4:p.Ile234Thr
ENST00000321348.8:c.701T>C ENSP00000319141.4:p.Ile234Thr
ENST00000375252.3:c.*18T>C ENSP00000364401.3:n.*18T>C
ENST00000409484.5:c.527T>C ENSP00000386739.1:p.Ile176Thr
NM_001127383.1:c.*18T>C NP_001120855.1:n.*18T>C
NM_001256909.1:c.527T>C NP_001243838.1:p.Ile176Thr
NM_024843.3:c.701T>C NP_079119.3:p.Ile234Thr
NM_024843.4:c.701T>C MANE Select NP_079119.3:p.Ile234Thr
NM_001127383.2:c.*18T>C NP_001120855.1:n.*18T>C
NM_001256909.2:c.527T>C NP_001243838.1:p.Ile176Thr
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