Canonical Allele Identifier: CA948606

Gene: BRDT

Linked Data

• dbSNP Id: rs3088232
• ExAC: 1:92445257 C / T
• gnomAD v2: 1-92445257-C-T
• gnomAD v3: 1-91979700-C-T
• gnomAD v4: 1-91979700-C-T
• MyVariant Identifiers: chr1:g.92445257C>T (hg19) ; chr1:g.91979700C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.91979700C>T , CM000663.2:g.91979700C>T	GRCh38
NC_000001.10:g.92445257C>T , CM000663.1:g.92445257C>T	GRCh37
NC_000001.9:g.92217845C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000399546.7:c.1230C>T MANE Select	ENSP00000387822.3:p.Asn410=
ENST00000426141.6:c.1230C>T	ENSP00000404969.1:p.Asn410=
ENST00000680091.1:c.1272C>T	ENSP00000506227.1:p.Asn424=
ENST00000680541.1:c.879C>T	ENSP00000505035.1:p.Asn293=
ENST00000362005.7:c.1230C>T	ENSP00000354568.3:p.Asn410=
ENST00000370389.6:c.1011C>T	ENSP00000359416.2:p.Asn337=
ENST00000394530.7:c.1092C>T	ENSP00000378038.3:p.Asn364=
ENST00000399546.6:c.1242C>T	ENSP00000387822.2:p.Asn414=
ENST00000402388.1:c.1230C>T	ENSP00000384051.1:p.Asn410=
ENST00000426141.5:c.1230C>T	ENSP00000404969.1:p.Asn410=
NM_001242805.2:c.1230C>T	NP_001229734.2:p.Asn410=
NM_001242806.2:c.1242C>T	NP_001229735.2:p.Asn414=
NM_001242807.2:c.1092C>T	NP_001229736.2:p.Asn364=
NM_001242808.2:c.1092C>T	NP_001229737.2:p.Asn364=
NM_001242810.2:c.1011C>T	NP_001229739.2:p.Asn337=
NM_001726.4:c.1230C>T	NP_001717.3:p.Asn410=
NM_207189.3:c.1230C>T	NP_997072.2:p.Asn410=
XM_006710853.2:c.1230C>T	XP_006710916.1:p.Asn410=
XM_006710854.2:c.1230C>T	XP_006710917.1:p.Asn410=
XM_006710855.2:c.1230C>T	XP_006710918.1:p.Asn410=
XM_006710856.2:c.1230C>T	XP_006710919.1:p.Asn410=
XM_006710857.2:c.1230C>T	XP_006710920.1:p.Asn410=
XM_011542032.1:c.1230C>T	XP_011540334.1:p.Asn410=
XM_011542033.1:c.1230C>T	XP_011540335.1:p.Asn410=
XM_011542034.1:c.1230C>T	XP_011540336.1:p.Asn410=
XM_011542035.1:c.1230C>T	XP_011540337.1:p.Asn410=
XM_011542036.1:c.1230C>T	XP_011540338.1:p.Asn410=
XM_006710853.4:c.1230C>T	XP_006710916.1:p.Asn410=
XM_006710854.4:c.1230C>T	XP_006710917.1:p.Asn410=
XM_006710855.4:c.1230C>T	XP_006710918.1:p.Asn410=
XM_006710856.4:c.1230C>T	XP_006710919.1:p.Asn410=
XM_006710857.4:c.1230C>T	XP_006710920.1:p.Asn410=
XM_011542032.3:c.1230C>T	XP_011540334.1:p.Asn410=
XM_011542033.3:c.1230C>T	XP_011540335.1:p.Asn410=
XM_011542034.3:c.1230C>T	XP_011540336.1:p.Asn410=
XM_011542035.3:c.1230C>T	XP_011540337.1:p.Asn410=
XM_011542036.3:c.1230C>T	XP_011540338.1:p.Asn410=
NM_207189.4:c.1230C>T MANE Select	NP_997072.2:p.Asn410=