Canonical Allele Identifier: CA351962544

Gene: BTD

Linked Data

• ClinVar Variation Id: 439034
• ClinVar RCV Id: RCV001309054
• dbSNP Id: rs771537277
• gnomAD v4: 3-15645459-C-T
• MyVariant Identifiers: chr3:g.15686966C>T (hg19) ; chr3:g.15645459C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15645459C>T , CM000665.2:g.15645459C>T	GRCh38
NC_000003.11:g.15686966C>T , CM000665.1:g.15686966C>T	GRCh37
NC_000003.10:g.15661970C>T	NCBI36
NG_008019.1:g.48712C>T
NG_008019.2:g.49108C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000436193.6:c.1543C>T	ENSP00000394277.2:p.Leu515Phe
ENST00000671928.2:c.399+3402C>T	ENSP00000500069.2:n.399+3402C>T
ENST00000672892.2:c.1015+528C>T	ENSP00000499944.2:n.1015+528C>T
ENST00000303498.10:c.1543C>T	ENSP00000306477.6:p.Leu515Phe
ENST00000427382.2:c.1543C>T	ENSP00000397113.2:p.Leu515Phe
ENST00000437172.6:c.1543C>T	ENSP00000400995.2:p.Leu515Phe
ENST00000449107.7:c.1543C>T	ENSP00000388212.2:p.Leu515Phe
ENST00000643237.3:c.1543C>T MANE Select	ENSP00000495254.2:p.Leu515Phe
ENST00000646371.1:c.1543C>T	ENSP00000495866.1:p.Leu515Phe
ENST00000671928.1:c.165+3402C>T	ENSP00000500069.1:n.165+3402C>T
ENST00000672065.1:c.1603C>T	ENSP00000500403.1:p.Leu535Phe
ENST00000672112.1:c.1609C>T	ENSP00000500193.1:p.Leu537Phe
ENST00000672141.1:c.399+3402C>T	ENSP00000500210.1:n.399+3402C>T
ENST00000672427.1:c.1015+528C>T	ENSP00000500131.1:n.1015+528C>T
ENST00000672760.1:c.399+3402C>T	ENSP00000500530.1:n.399+3402C>T
ENST00000672892.1:c.793+528C>T	ENSP00000499944.1:n.793+528C>T
ENST00000673467.1:c.399+3402C>T	ENSP00000500288.1:n.399+3402C>T
ENST00000673620.1:c.399+3402C>T	ENSP00000500325.1:n.399+3402C>T
ENST00000303498.9:c.1603C>T	ENSP00000306477.5:p.Leu535Phe
ENST00000383778.5:c.1543C>T	ENSP00000373288.4:p.Leu515Phe
ENST00000437172.5:c.1609C>T	ENSP00000400995.1:p.Leu537Phe
ENST00000449107.5:c.1609C>T	ENSP00000388212.1:p.Leu537Phe
NM_000060.3:c.1603C>T	NP_000051.1:p.Leu535Phe
NM_001281723.1:c.1609C>T	NP_001268652.1:p.Leu537Phe
NM_001281724.1:c.1609C>T	NP_001268653.1:p.Leu537Phe
NM_001281725.1:c.1543C>T	NP_001268654.1:p.Leu515Phe
XM_006713314.2:c.1543C>T	XP_006713377.1:p.Leu515Phe
XM_011534041.1:c.1543C>T	XP_011532343.1:p.Leu515Phe
NM_000060.4:c.1603C>T	NP_000051.1:p.Leu535Phe
NM_001281723.2:c.1609C>T	NP_001268652.1:p.Leu537Phe
NM_001281724.2:c.1609C>T	NP_001268653.1:p.Leu537Phe
NM_001281725.2:c.1543C>T	NP_001268654.1:p.Leu515Phe
NM_001323582.1:c.1543C>T	NP_001310511.1:p.Leu515Phe
XM_011534041.2:c.1543C>T	XP_011532343.1:p.Leu515Phe
XM_017007088.1:c.1543C>T	XP_016862577.1:p.Leu515Phe
XM_024453724.1:c.1543C>T	XP_024309492.1:p.Leu515Phe
NM_001281723.3:c.1543C>T	NP_001268652.2:p.Leu515Phe
NM_001281724.3:c.1543C>T	NP_001268653.2:p.Leu515Phe
NM_001370658.1:c.1543C>T MANE Select	NP_001357587.1:p.Leu515Phe
NM_001370752.1:c.1015+528C>T	NP_001357681.1:n.1015+528C>T
NM_001370753.1:c.399+3402C>T	NP_001357682.1:n.399+3402C>T
NM_001281726.2:c.*3321C>T	NP_001268655.2:n.*3321C>T