Canonical Allele Identifier: CA278340

Gene: BTD

Linked Data

• ClinVar Variation Id: 25089
• ClinVar RCV Id: RCV000022014 ; RCV000484254
• dbSNP Id: rs181396238
• ExAC: 3:15686795 G / C
• gnomAD v2: 3-15686795-G-C
• gnomAD v4: 3-15645288-G-C
• MyVariant Identifiers: chr3:g.15686795G>C (hg19) ; chr3:g.15645288G>C (hg38)
• PubMed: PMID:19757147

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15645288G>C , CM000665.2:g.15645288G>C	GRCh38
NC_000003.11:g.15686795G>C , CM000665.1:g.15686795G>C	GRCh37
NC_000003.10:g.15661799G>C	NCBI36
NG_008019.1:g.48541G>C
NG_008019.2:g.48937G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000436193.6:c.1372G>C	ENSP00000394277.2:p.Ala458Pro
ENST00000671928.2:c.399+3231G>C	ENSP00000500069.2:n.399+3231G>C
ENST00000672892.2:c.1015+357G>C	ENSP00000499944.2:n.1015+357G>C
ENST00000303498.10:c.1372G>C	ENSP00000306477.6:p.Ala458Pro
ENST00000427382.2:c.1372G>C	ENSP00000397113.2:p.Ala458Pro
ENST00000437172.6:c.1372G>C	ENSP00000400995.2:p.Ala458Pro
ENST00000449107.7:c.1372G>C	ENSP00000388212.2:p.Ala458Pro
ENST00000643237.3:c.1372G>C MANE Select	ENSP00000495254.2:p.Ala458Pro
ENST00000646371.1:c.1372G>C	ENSP00000495866.1:p.Ala458Pro
ENST00000671928.1:c.165+3231G>C	ENSP00000500069.1:n.165+3231G>C
ENST00000672065.1:c.1432G>C	ENSP00000500403.1:p.Ala478Pro
ENST00000672112.1:c.1438G>C	ENSP00000500193.1:p.Ala480Pro
ENST00000672141.1:c.399+3231G>C	ENSP00000500210.1:n.399+3231G>C
ENST00000672427.1:c.1015+357G>C	ENSP00000500131.1:n.1015+357G>C
ENST00000672760.1:c.399+3231G>C	ENSP00000500530.1:n.399+3231G>C
ENST00000672892.1:c.793+357G>C	ENSP00000499944.1:n.793+357G>C
ENST00000673467.1:c.399+3231G>C	ENSP00000500288.1:n.399+3231G>C
ENST00000673620.1:c.399+3231G>C	ENSP00000500325.1:n.399+3231G>C
ENST00000303498.9:c.1432G>C	ENSP00000306477.5:p.Ala478Pro
ENST00000383778.5:c.1372G>C	ENSP00000373288.4:p.Ala458Pro
ENST00000437172.5:c.1438G>C	ENSP00000400995.1:p.Ala480Pro
ENST00000449107.5:c.1438G>C	ENSP00000388212.1:p.Ala480Pro
NM_000060.3:c.1432G>C	NP_000051.1:p.Ala478Pro
NM_001281723.1:c.1438G>C	NP_001268652.1:p.Ala480Pro
NM_001281724.1:c.1438G>C	NP_001268653.1:p.Ala480Pro
NM_001281725.1:c.1372G>C	NP_001268654.1:p.Ala458Pro
XM_006713314.2:c.1372G>C	XP_006713377.1:p.Ala458Pro
XM_011534041.1:c.1372G>C	XP_011532343.1:p.Ala458Pro
NM_000060.4:c.1432G>C	NP_000051.1:p.Ala478Pro
NM_001281723.2:c.1438G>C	NP_001268652.1:p.Ala480Pro
NM_001281724.2:c.1438G>C	NP_001268653.1:p.Ala480Pro
NM_001281725.2:c.1372G>C	NP_001268654.1:p.Ala458Pro
NM_001323582.1:c.1372G>C	NP_001310511.1:p.Ala458Pro
XM_011534041.2:c.1372G>C	XP_011532343.1:p.Ala458Pro
XM_017007088.1:c.1372G>C	XP_016862577.1:p.Ala458Pro
XM_024453724.1:c.1372G>C	XP_024309492.1:p.Ala458Pro
NM_001281723.3:c.1372G>C	NP_001268652.2:p.Ala458Pro
NM_001281724.3:c.1372G>C	NP_001268653.2:p.Ala458Pro
NM_001370658.1:c.1372G>C MANE Select	NP_001357587.1:p.Ala458Pro
NM_001370752.1:c.1015+357G>C	NP_001357681.1:n.1015+357G>C
NM_001370753.1:c.399+3231G>C	NP_001357682.1:n.399+3231G>C
NM_001281726.2:c.*3150G>C	NP_001268655.2:n.*3150G>C