Canonical Allele Identifier: CA11845786
Gene: BST1 HGNC NCBI

Linked Data

dbSNP Id: rs11931532
gnomAD v2: 4-15725766-T-C
gnomAD v3: 4-15724143-T-C
gnomAD v4: 4-15724143-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15724143T>C , CM000666.2:g.15724143T>C GRCh38
NC_000004.11:g.15725766T>C , CM000666.1:g.15725766T>C GRCh37
NC_000004.10:g.15334864T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000265016.9:c.851+1209T>C MANE Select ENSP00000265016.4:n.851+1209T>C
ENST00000265016.8:c.851+1209T>C ENSP00000265016.4:n.851+1209T>C
ENST00000382346.7:c.896+1209T>C ENSP00000371783.3:n.896+1209T>C
ENST00000514445.5:c.401+1209T>C ENSP00000420925.1:n.401+1209T>C
ENST00000514989.1:c.274+1209T>C
NM_004334.2:c.851+1209T>C NP_004325.2:n.851+1209T>C
XM_005248184.3:c.851+1209T>C XP_005248241.1:n.851+1209T>C
XM_005248186.1:c.851+1209T>C XP_005248243.1:n.851+1209T>C
XM_011513878.1:c.851+1209T>C XP_011512180.1:n.851+1209T>C
XM_011513879.1:c.851+1209T>C XP_011512181.1:n.851+1209T>C
XM_011513880.1:c.851+1209T>C XP_011512182.1:n.851+1209T>C
XM_011513881.1:c.677+1209T>C XP_011512183.1:n.677+1209T>C
XM_005248186.2:c.851+1209T>C XP_005248243.1:n.851+1209T>C
XM_011513878.3:c.851+1209T>C XP_011512180.1:n.851+1209T>C
XM_011513879.2:c.851+1209T>C XP_011512181.1:n.851+1209T>C
XM_011513881.2:c.677+1209T>C XP_011512183.1:n.677+1209T>C
XM_017008565.2:c.851+1209T>C XP_016864054.1:n.851+1209T>C
XM_017008566.2:c.851+1209T>C XP_016864055.1:n.851+1209T>C
NM_004334.3:c.851+1209T>C MANE Select NP_004325.2:n.851+1209T>C