Canonical Allele Identifier: CA341084539

Gene: BRDT

Linked Data

• dbSNP Id: rs10747493
• gnomAD v4: 1-91992286-C-A
• MyVariant Identifiers: chr1:g.92457843C>A (hg19) ; chr1:g.91992286C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.91992286C>A , CM000663.2:g.91992286C>A	GRCh38
NC_000001.10:g.92457843C>A , CM000663.1:g.92457843C>A	GRCh37
NC_000001.9:g.92230431C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000399546.7:c.2087C>A MANE Select	ENSP00000387822.3:p.Pro696Gln
ENST00000362005.7:c.2087C>A	ENSP00000354568.3:p.Pro696Gln
ENST00000370389.6:c.1868C>A	ENSP00000359416.2:p.Pro623Gln
ENST00000394530.7:c.1949C>A	ENSP00000378038.3:p.Pro650Gln
ENST00000399546.6:c.2099C>A	ENSP00000387822.2:p.Pro700Gln
ENST00000402388.1:c.2087C>A	ENSP00000384051.1:p.Pro696Gln
NM_001242805.2:c.2087C>A	NP_001229734.2:p.Pro696Gln
NM_001242806.2:c.2099C>A	NP_001229735.2:p.Pro700Gln
NM_001242807.2:c.1949C>A	NP_001229736.2:p.Pro650Gln
NM_001242808.2:c.1949C>A	NP_001229737.2:p.Pro650Gln
NM_001242810.2:c.1868C>A	NP_001229739.2:p.Pro623Gln
NM_001726.4:c.2087C>A	NP_001717.3:p.Pro696Gln
NM_207189.3:c.2087C>A	NP_997072.2:p.Pro696Gln
XM_006710853.2:c.2087C>A	XP_006710916.1:p.Pro696Gln
XM_006710854.2:c.2087C>A	XP_006710917.1:p.Pro696Gln
XM_006710855.2:c.2087C>A	XP_006710918.1:p.Pro696Gln
XM_006710856.2:c.2087C>A	XP_006710919.1:p.Pro696Gln
XM_006710857.2:c.2087C>A	XP_006710920.1:p.Pro696Gln
XM_011542032.1:c.2087C>A	XP_011540334.1:p.Pro696Gln
XM_011542033.1:c.2087C>A	XP_011540335.1:p.Pro696Gln
XM_011542034.1:c.2087C>A	XP_011540336.1:p.Pro696Gln
XM_011542035.1:c.2087C>A	XP_011540337.1:p.Pro696Gln
XM_011542036.1:c.2087C>A	XP_011540338.1:p.Pro696Gln
XM_006710853.4:c.2087C>A	XP_006710916.1:p.Pro696Gln
XM_006710854.4:c.2087C>A	XP_006710917.1:p.Pro696Gln
XM_006710855.4:c.2087C>A	XP_006710918.1:p.Pro696Gln
XM_006710856.4:c.2087C>A	XP_006710919.1:p.Pro696Gln
XM_006710857.4:c.2087C>A	XP_006710920.1:p.Pro696Gln
XM_011542032.3:c.2087C>A	XP_011540334.1:p.Pro696Gln
XM_011542033.3:c.2087C>A	XP_011540335.1:p.Pro696Gln
XM_011542034.3:c.2087C>A	XP_011540336.1:p.Pro696Gln
XM_011542035.3:c.2087C>A	XP_011540337.1:p.Pro696Gln
XM_011542036.3:c.2087C>A	XP_011540338.1:p.Pro696Gln
NM_207189.4:c.2087C>A MANE Select	NP_997072.2:p.Pro696Gln