Canonical Allele Identifier: CA349282221
Gene: CYBRD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.172411179C>G (hg19) chr2:g.171554669C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171554669C>G , CM000664.2:g.171554669C>G GRCh38
NC_000002.11:g.172411179C>G , CM000664.1:g.172411179C>G GRCh37
NC_000002.10:g.172119425C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000321348.9:c.703C>G MANE Select ENSP00000319141.4:p.Leu235Val
ENST00000321348.8:c.703C>G ENSP00000319141.4:p.Leu235Val
ENST00000375252.3:c.*20C>G ENSP00000364401.3:n.*20C>G
ENST00000409484.5:c.529C>G ENSP00000386739.1:p.Leu177Val
NM_001127383.1:c.*20C>G NP_001120855.1:n.*20C>G
NM_001256909.1:c.529C>G NP_001243838.1:p.Leu177Val
NM_024843.3:c.703C>G NP_079119.3:p.Leu235Val
NM_024843.4:c.703C>G MANE Select NP_079119.3:p.Leu235Val
NM_001127383.2:c.*20C>G NP_001120855.1:n.*20C>G
NM_001256909.2:c.529C>G NP_001243838.1:p.Leu177Val
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