Canonical Allele Identifier: CA429777041
Gene: CYBRD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.172411178T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171554668T>C , CM000664.2:g.171554668T>C GRCh38
NC_000002.11:g.172411178T>C , CM000664.1:g.172411178T>C GRCh37
NC_000002.10:g.172119424T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000321348.9:c.702T>C MANE Select ENSP00000319141.4:p.Ile234=
ENST00000321348.8:c.702T>C ENSP00000319141.4:p.Ile234=
ENST00000375252.3:c.*19T>C ENSP00000364401.3:n.*19T>C
ENST00000409484.5:c.528T>C ENSP00000386739.1:p.Ile176=
NM_001127383.1:c.*19T>C NP_001120855.1:n.*19T>C
NM_001256909.1:c.528T>C NP_001243838.1:p.Ile176=
NM_024843.3:c.702T>C NP_079119.3:p.Ile234=
NM_024843.4:c.702T>C MANE Select NP_079119.3:p.Ile234=
NM_001127383.2:c.*19T>C NP_001120855.1:n.*19T>C
NM_001256909.2:c.528T>C NP_001243838.1:p.Ile176=