Canonical Allele Identifier: CA2580588857

Gene: BST1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15736314A>C , CM000666.2:g.15736314A>C	GRCh38
NC_000004.11:g.15737937A>C , CM000666.1:g.15737937A>C	GRCh37
NC_000004.10:g.15347035A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000514445.5:c.480+183A>C	ENSP00000420925.1:n.480+183A>C
ENST00000514989.1:c.275-1473A>C
XM_005248186.1:c.852-1473A>C	XP_005248243.1:n.852-1473A>C
XM_011513878.1:c.851+13380A>C	XP_011512180.1:n.851+13380A>C
XM_011513879.1:c.852-1394A>C	XP_011512181.1:n.852-1394A>C
XM_005248186.2:c.852-1473A>C	XP_005248243.1:n.852-1473A>C
XM_011513878.3:c.851+13380A>C	XP_011512180.1:n.851+13380A>C
XM_011513879.2:c.852-1394A>C	XP_011512181.1:n.852-1394A>C
XM_017008565.2:c.*12+183A>C	XP_016864054.1:n.*12+183A>C
XM_017008566.2:c.851+13380A>C	XP_016864055.1:n.851+13380A>C