Canonical Allele Identifier: CA081767

Gene: BTD

Linked Data

• ClinVar Variation Id: 1904
• ClinVar RCV Id: RCV000001981
• PubMed: PMID:10400129

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.[15645063T>G;15645186G>C] , CM000665.2:g.[15645063T>G;15645186G>C]	GRCh38
NC_000003.11:g.[15686570T>G;15686693G>C] , CM000665.1:g.[15686570T>G;15686693G>C]	GRCh37
NC_000003.10:g.[15661574T>G;15661697G>C]	NCBI36
NG_008019.1:g.[48316T>G;48439G>C]
NG_008019.2:g.[48712T>G;48835G>C]

Transcript Alleles

HGVS	Amino-acid change
ENST00000436193.6:c.[1147T>G;1270G>C]	ENSP00000394277.2:p.[Phe383Val;Asp424His]...
ENST00000671928.2:c.[399+3006T>G;399+3129G>C]	ENSP00000500069.2:n.[399+3006T>G;399+3129...
ENST00000672892.2:c.[1015+132T>G;1015+255G>C]	ENSP00000499944.2:n.[1015+132T>G;1015+255...
ENST00000303498.10:c.[1147T>G;1270G>C]	ENSP00000306477.6:p.[Phe383Val;Asp424His]...
ENST00000427382.2:c.[1147T>G;1270G>C]	ENSP00000397113.2:p.[Phe383Val;Asp424His]...
ENST00000437172.6:c.[1147T>G;1270G>C]	ENSP00000400995.2:p.[Phe383Val;Asp424His]...
ENST00000449107.7:c.[1147T>G;1270G>C]	ENSP00000388212.2:p.[Phe383Val;Asp424His]...
ENST00000643237.3:c.[1147T>G;1270G>C] MANE Select	ENSP00000495254.2:p.[Phe383Val;Asp424His]...
ENST00000646371.1:c.[1147T>G;1270G>C]	ENSP00000495866.1:p.[Phe383Val;Asp424His]...
ENST00000671928.1:c.[165+3006T>G;165+3129G>C]	ENSP00000500069.1:n.[165+3006T>G;165+3129...
ENST00000672065.1:c.[1207T>G;1330G>C]	ENSP00000500403.1:p.[Phe403Val;Asp444His]...
ENST00000672112.1:c.[1213T>G;1336G>C]	ENSP00000500193.1:p.[Phe405Val;Asp446His]...
ENST00000672141.1:c.[399+3006T>G;399+3129G>C]	ENSP00000500210.1:n.[399+3006T>G;399+3129...
ENST00000672427.1:c.[1015+132T>G;1015+255G>C]	ENSP00000500131.1:n.[1015+132T>G;1015+255...
ENST00000672760.1:c.[399+3006T>G;399+3129G>C]	ENSP00000500530.1:n.[399+3006T>G;399+3129...
ENST00000672892.1:c.[793+132T>G;793+255G>C]	ENSP00000499944.1:n.[793+132T>G;793+255G>...
ENST00000673467.1:c.[399+3006T>G;399+3129G>C]	ENSP00000500288.1:n.[399+3006T>G;399+3129...
ENST00000673620.1:c.[399+3006T>G;399+3129G>C]	ENSP00000500325.1:n.[399+3006T>G;399+3129...
ENST00000303498.9:c.[1207T>G;1330G>C]	ENSP00000306477.5:p.[Phe403Val;Asp444His]...
ENST00000383778.5:c.[1147T>G;1270G>C]	ENSP00000373288.4:p.[Phe383Val;Asp424His]...
ENST00000437172.5:c.[1213T>G;1336G>C]	ENSP00000400995.1:p.[Phe405Val;Asp446His]...
ENST00000449107.5:c.[1213T>G;1336G>C]	ENSP00000388212.1:p.[Phe405Val;Asp446His]...
NM_000060.3:c.[1207T>G;1330G>C]	NP_000051.1:p.[Phe403Val;Asp444His]
NM_001281723.1:c.[1213T>G;1336G>C]	NP_001268652.1:p.[Phe405Val;Asp446His]
NM_001281724.1:c.[1213T>G;1336G>C]	NP_001268653.1:p.[Phe405Val;Asp446His]
NM_001281725.1:c.[1147T>G;1270G>C]	NP_001268654.1:p.[Phe383Val;Asp424His]
XM_006713314.2:c.[1147T>G;1270G>C]	XP_006713377.1:p.[Phe383Val;Asp424His]
XM_011534041.1:c.[1147T>G;1270G>C]	XP_011532343.1:p.[Phe383Val;Asp424His]
NM_000060.4:c.[1207T>G;1330G>C]	NP_000051.1:p.[Phe403Val;Asp444His]
NM_001281723.2:c.[1213T>G;1336G>C]	NP_001268652.1:p.[Phe405Val;Asp446His]
NM_001281724.2:c.[1213T>G;1336G>C]	NP_001268653.1:p.[Phe405Val;Asp446His]
NM_001281725.2:c.[1147T>G;1270G>C]	NP_001268654.1:p.[Phe383Val;Asp424His]
NM_001323582.1:c.[1147T>G;1270G>C]	NP_001310511.1:p.[Phe383Val;Asp424His]
XM_011534041.2:c.[1147T>G;1270G>C]	XP_011532343.1:p.[Phe383Val;Asp424His]
XM_017007088.1:c.[1147T>G;1270G>C]	XP_016862577.1:p.[Phe383Val;Asp424His]
XM_024453724.1:c.[1147T>G;1270G>C]	XP_024309492.1:p.[Phe383Val;Asp424His]
NM_001281723.3:c.[1147T>G;1270G>C]	NP_001268652.2:p.[Phe383Val;Asp424His]
NM_001281724.3:c.[1147T>G;1270G>C]	NP_001268653.2:p.[Phe383Val;Asp424His]
NM_001370658.1:c.[1147T>G;1270G>C] MANE Select	NP_001357587.1:p.[Phe383Val;Asp424His]
NM_001370752.1:c.[1015+132T>G;1015+255G>C]	NP_001357681.1:n.[1015+132T>G;1015+255G>C...
NM_001370753.1:c.[399+3006T>G;399+3129G>C]	NP_001357682.1:n.[399+3006T>G;399+3129G>C...
NM_001281726.2:c.[*2925T>G;*3048G>C]	NP_001268655.2:n.[*2925T>G;*3048G>C]