Canonical Allele Identifier: CA14149974

Gene: BTBD1

Linked Data

• dbSNP Id: rs1568657
• gnomAD v2: 15-83726179-A-G
• gnomAD v3: 15-83057427-A-G
• gnomAD v4: 15-83057427-A-G
• MyVariant Identifiers: chr15:g.83726179A>G (hg19) ; chr15:g.83057427A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.83057427A>G , CM000677.2:g.83057427A>G	GRCh38
NC_000015.9:g.83726179A>G , CM000677.1:g.83726179A>G	GRCh37
NC_000015.8:g.81517183A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000261721.9:c.402-882T>C MANE Select	ENSP00000261721.4:n.402-882T>C
ENST00000261721.8:c.402-882T>C	ENSP00000261721.4:n.402-882T>C
ENST00000379403.2:c.402-882T>C	ENSP00000368713.2:n.402-882T>C
NM_001011885.1:c.402-882T>C	NP_001011885.1:n.402-882T>C
NM_025238.3:c.402-882T>C	NP_079514.1:n.402-882T>C
XR_931846.1:n.685-882T>C
XR_002957648.1:n.509-882T>C
XR_931846.3:n.509-882T>C
NM_001011885.2:c.402-882T>C	NP_001011885.1:n.402-882T>C
NM_025238.4:c.402-882T>C MANE Select	NP_079514.1:n.402-882T>C