Canonical Allele Identifier: CA1965385

Gene: CYBRD1

Linked Data

• dbSNP Id: rs763520436
• ExAC: 2:172411183 A / T
• gnomAD v2: 2-172411183-A-T
• gnomAD v4: 2-171554673-A-T
• MyVariant Identifiers: chr2:g.172411183A>T (hg19) ; chr2:g.171554673A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.171554673A>T , CM000664.2:g.171554673A>T	GRCh38
NC_000002.11:g.172411183A>T , CM000664.1:g.172411183A>T	GRCh37
NC_000002.10:g.172119429A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321348.9:c.707A>T MANE Select	ENSP00000319141.4:p.His236Leu
ENST00000321348.8:c.707A>T	ENSP00000319141.4:p.His236Leu
ENST00000375252.3:c.*24A>T	ENSP00000364401.3:n.*24A>T
ENST00000409484.5:c.533A>T	ENSP00000386739.1:p.His178Leu
NM_001127383.1:c.*24A>T	NP_001120855.1:n.*24A>T
NM_001256909.1:c.533A>T	NP_001243838.1:p.His178Leu
NM_024843.3:c.707A>T	NP_079119.3:p.His236Leu
NM_024843.4:c.707A>T MANE Select	NP_079119.3:p.His236Leu
NM_001127383.2:c.*24A>T	NP_001120855.1:n.*24A>T
NM_001256909.2:c.533A>T	NP_001243838.1:p.His178Leu