Canonical Allele Identifier: CA2174160720
Gene: BLOC1S6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45603008T= , CM000677.2:g.45603008T= GRCh38
NC_000015.9:g.45895206T= , CM000677.1:g.45895206T= GRCh37
NC_000015.8:g.43682498T= NCBI36
NG_028194.2:g.20790T= , LRG_883:g.20790T=

Transcript Alleles

HGVS Amino-acid change
ENST00000220531.9:c.225-92T= MANE Select ENSP00000220531.4:n.225-92T=
ENST00000564310.2:c.158-96T=
ENST00000565323.6:c.240-92T= ENSP00000456851.1:n.240-92T=
ENST00000672455.1:c.*218-92T= ENSP00000500302.1:n.*218-92T=
ENST00000220531.7:c.225-92T= ENSP00000220531.3:n.225-92T=
ENST00000562384.5:c.-67-92T= ENSP00000457077.1:n.-67-92T=
ENST00000563000.5:n.238-2420T=
ENST00000563160.5:n.194-2420T=
ENST00000564080.1:c.-18+15483T= ENSP00000455047.1:n.-18+15483T=
ENST00000564310.1:c.154-96T=
ENST00000564765.1:c.-67-92T= ENSP00000454537.1:n.-67-92T=
ENST00000565216.5:c.102-92T= ENSP00000456067.1:n.102-92T=
ENST00000565323.5:c.240-92T= ENSP00000456851.1:n.240-92T=
ENST00000565409.5:c.-67-92T= ENSP00000455599.1:n.-67-92T=
ENST00000565727.5:n.106-2420T=
ENST00000566184.1:n.148-2420T=
ENST00000566801.5:c.-67-92T= ENSP00000454715.1:n.-67-92T=
ENST00000567461.5:c.-67-92T= ENSP00000456152.1:n.-67-92T=
ENST00000567523.5:c.225-96T= ENSP00000456624.1:n.225-96T=
ENST00000567740.5:n.313-2420T=
ENST00000568597.5:c.225-2420T= ENSP00000454638.1:n.225-2420T=
ENST00000568816.5:c.-67-92T= ENSP00000455021.1:n.-67-92T=
ENST00000568963.5:c.83-96T= ENSP00000454438.1:n.83-96T=
ENST00000569076.5:c.75-92T= ENSP00000454803.1:n.75-92T=
NM_001311255.1:c.240-92T= NP_001298184.1:n.240-92T=
NM_001311256.1:c.240-2420T= NP_001298185.1:n.240-2420T=
NM_012388.2:c.225-92T= NP_036520.1:n.225-92T=
NM_012388.3:c.225-92T= , LRG_883t1:c.225-92T= NP_036520.1:n.225-92T=
NR_132350.1:n.554-92T=
NR_132351.1:n.546-96T=
NR_132352.1:n.546-2420T=
NR_132353.1:n.404-92T=
NR_132354.1:n.404-96T=
NR_132355.1:n.404-2420T=
NR_132356.1:n.248-92T=
NR_132357.1:n.248-92T=
NR_132358.1:n.238-2420T=
NR_132359.1:n.106-2420T=
NM_012388.4:c.225-92T= MANE Select NP_036520.1:n.225-92T=
NR_132351.2:n.290-96T=
NR_132352.2:n.290-2420T=
NR_132355.2:n.148-2420T=
NR_132356.2:n.248-92T=
NR_132357.2:n.248-92T=
NR_132359.2:n.106-2420T=