Canonical Allele Identifier: CA2191664626

Gene: BTBD1

Linked Data

• dbSNP Id: rs2033106097

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.83057407T>C , CM000677.2:g.83057407T>C	GRCh38
NC_000015.9:g.83726159T>C , CM000677.1:g.83726159T>C	GRCh37
NC_000015.8:g.81517163T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261721.9:c.402-862A>G MANE Select	ENSP00000261721.4:n.402-862A>G
ENST00000261721.8:c.402-862A>G	ENSP00000261721.4:n.402-862A>G
ENST00000379403.2:c.402-862A>G	ENSP00000368713.2:n.402-862A>G
NM_001011885.1:c.402-862A>G	NP_001011885.1:n.402-862A>G
NM_025238.3:c.402-862A>G	NP_079514.1:n.402-862A>G
XR_931846.1:n.685-862A>G
XR_002957648.1:n.509-862A>G
XR_931846.3:n.509-862A>G
NM_001011885.2:c.402-862A>G	NP_001011885.1:n.402-862A>G
NM_025238.4:c.402-862A>G MANE Select	NP_079514.1:n.402-862A>G