Canonical Allele Identifier: CA082670

Gene: BTD

Linked Data

• PubMed: PMID:15776412

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.[15635614C>T;15645217A>C] , CM000665.2:g.[15635614C>T;15645217A>C]	GRCh38
NC_000003.11:g.[15677121C>T;15686724A>C] , CM000665.1:g.[15677121C>T;15686724A>C]	GRCh37
NC_000003.10:g.[15652125C>T;15661728A>C]	NCBI36
NG_008019.1:g.[38867C>T;48470A>C]
NG_008019.2:g.[39263C>T;48866A>C]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436193.6:c.[175C>T;1301A>C]	ENSP00000394277.2:p.[Arg59Cys;Tyr434Ser]
ENST00000671928.2:c.[175C>T;399+3160A>C]	ENSP00000500069.2:p.Arg59Cys
ENST00000672892.2:c.[175C>T;1015+286A>C]	ENSP00000499944.2:p.Arg59Cys
ENST00000303498.10:c.[175C>T;1301A>C]	ENSP00000306477.6:p.[Arg59Cys;Tyr434Ser]
ENST00000427382.2:c.[175C>T;1301A>C]	ENSP00000397113.2:p.[Arg59Cys;Tyr434Ser]
ENST00000437172.6:c.[175C>T;1301A>C]	ENSP00000400995.2:p.[Arg59Cys;Tyr434Ser]
ENST00000449107.7:c.[175C>T;1301A>C]	ENSP00000388212.2:p.[Arg59Cys;Tyr434Ser]
ENST00000643237.3:c.[175C>T;1301A>C] MANE Select	ENSP00000495254.2:p.[Arg59Cys;Tyr434Ser]
ENST00000646371.1:c.[175C>T;1301A>C]	ENSP00000495866.1:p.[Arg59Cys;Tyr434Ser]
ENST00000672065.1:c.[235C>T;1361A>C]	ENSP00000500403.1:p.[Arg79Cys;Tyr454Ser]
ENST00000672112.1:c.[241C>T;1367A>C]	ENSP00000500193.1:p.[Arg81Cys;Tyr456Ser]
ENST00000672141.1:c.[175C>T;399+3160A>C]	ENSP00000500210.1:p.Arg59Cys
ENST00000672427.1:c.[175C>T;1015+286A>C]	ENSP00000500131.1:p.Arg59Cys
ENST00000672760.1:c.[175C>T;399+3160A>C]	ENSP00000500530.1:p.Arg59Cys
ENST00000673467.1:c.[175C>T;399+3160A>C]	ENSP00000500288.1:p.Arg59Cys
ENST00000673620.1:c.[175C>T;399+3160A>C]	ENSP00000500325.1:p.Arg59Cys
ENST00000303498.9:c.[235C>T;1361A>C]	ENSP00000306477.5:p.[Arg79Cys;Tyr454Ser]
ENST00000383778.5:c.[175C>T;1301A>C]	ENSP00000373288.4:p.[Arg59Cys;Tyr434Ser]
ENST00000437172.5:c.[241C>T;1367A>C]	ENSP00000400995.1:p.[Arg81Cys;Tyr456Ser]
ENST00000449107.5:c.[241C>T;1367A>C]	ENSP00000388212.1:p.[Arg81Cys;Tyr456Ser]
NM_000060.3:c.[235C>T;1361A>C]	NP_000051.1:p.[Arg79Cys;Tyr454Ser]
NM_001281723.1:c.[241C>T;1367A>C]	NP_001268652.1:p.[Arg81Cys;Tyr456Ser]
NM_001281724.1:c.[241C>T;1367A>C]	NP_001268653.1:p.[Arg81Cys;Tyr456Ser]
NM_001281725.1:c.[175C>T;1301A>C]	NP_001268654.1:p.[Arg59Cys;Tyr434Ser]
XM_006713314.2:c.[175C>T;1301A>C]	XP_006713377.1:p.[Arg59Cys;Tyr434Ser]
XM_011534041.1:c.[175C>T;1301A>C]	XP_011532343.1:p.[Arg59Cys;Tyr434Ser]
NM_000060.4:c.[235C>T;1361A>C]	NP_000051.1:p.[Arg79Cys;Tyr454Ser]
NM_001281723.2:c.[241C>T;1367A>C]	NP_001268652.1:p.[Arg81Cys;Tyr456Ser]
NM_001281724.2:c.[241C>T;1367A>C]	NP_001268653.1:p.[Arg81Cys;Tyr456Ser]
NM_001281725.2:c.[175C>T;1301A>C]	NP_001268654.1:p.[Arg59Cys;Tyr434Ser]
NM_001323582.1:c.[175C>T;1301A>C]	NP_001310511.1:p.[Arg59Cys;Tyr434Ser]
XM_011534041.2:c.[175C>T;1301A>C]	XP_011532343.1:p.[Arg59Cys;Tyr434Ser]
XM_017007088.1:c.[175C>T;1301A>C]	XP_016862577.1:p.[Arg59Cys;Tyr434Ser]
XM_024453724.1:c.[175C>T;1301A>C]	XP_024309492.1:p.[Arg59Cys;Tyr434Ser]
NM_001281723.3:c.[175C>T;1301A>C]	NP_001268652.2:p.[Arg59Cys;Tyr434Ser]
NM_001281724.3:c.[175C>T;1301A>C]	NP_001268653.2:p.[Arg59Cys;Tyr434Ser]
NM_001370658.1:c.[175C>T;1301A>C] MANE Select	NP_001357587.1:p.[Arg59Cys;Tyr434Ser]
NM_001370752.1:c.[175C>T;1015+286A>C]	NP_001357681.1:p.Arg59Cys
NM_001370753.1:c.[175C>T;399+3160A>C]	NP_001357682.1:p.Arg59Cys
NM_001281726.2:c.[175C>T;*3079A>C]	NP_001268655.2:[p.Arg59Cys;n.*3079A>C]