Canonical Allele Identifier: CA349282223

Gene: CYBRD1

Linked Data

• MyVariant Identifiers: chr2:g.172411179C>T (hg19) ; chr2:g.171554669C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321348.9:c.703C>T MANE Select	ENSP00000319141.4:p.Leu235Phe
ENST00000321348.8:c.703C>T	ENSP00000319141.4:p.Leu235Phe
ENST00000375252.3:c.*20C>T	ENSP00000364401.3:n.*20C>T
ENST00000409484.5:c.529C>T	ENSP00000386739.1:p.Leu177Phe
NM_001127383.1:c.*20C>T	NP_001120855.1:n.*20C>T
NM_001256909.1:c.529C>T	NP_001243838.1:p.Leu177Phe
NM_024843.3:c.703C>T	NP_079119.3:p.Leu235Phe
NM_024843.4:c.703C>T MANE Select	NP_079119.3:p.Leu235Phe
NM_001127383.2:c.*20C>T	NP_001120855.1:n.*20C>T
NM_001256909.2:c.529C>T	NP_001243838.1:p.Leu177Phe