Canonical Allele Identifier: CA490290409

Gene: BLOC1S6

Linked Data

• MyVariant Identifiers: chr15:g.45895316G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45603118G>A , CM000677.2:g.45603118G>A	GRCh38
NC_000015.9:g.45895316G>A , CM000677.1:g.45895316G>A	GRCh37
NC_000015.8:g.43682608G>A	NCBI36
NG_028194.2:g.20900G>A , LRG_883:g.20900G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000220531.9:c.243G>A MANE Select	ENSP00000220531.4:p.Leu81=
ENST00000564310.2:c.172G>A
ENST00000565323.6:c.258G>A	ENSP00000456851.1:p.Leu86=
ENST00000672455.1:c.*236G>A	ENSP00000500302.1:n.*236G>A
ENST00000220531.7:c.243G>A	ENSP00000220531.3:p.Leu81=
ENST00000562384.5:c.-49G>A	ENSP00000457077.1:n.-49G>A
ENST00000563000.5:n.238-2310G>A
ENST00000563160.5:n.194-2310G>A
ENST00000564080.1:c.-18+15593G>A	ENSP00000455047.1:n.-18+15593G>A
ENST00000564310.1:c.168G>A
ENST00000564765.1:c.-49G>A	ENSP00000454537.1:n.-49G>A
ENST00000565216.5:c.120G>A	ENSP00000456067.1:p.Leu40=
ENST00000565323.5:c.258G>A	ENSP00000456851.1:p.Leu86=
ENST00000565409.5:c.-49G>A	ENSP00000455599.1:n.-49G>A
ENST00000565727.5:n.106-2310G>A
ENST00000566184.1:n.148-2310G>A
ENST00000566801.5:c.-49G>A	ENSP00000454715.1:n.-49G>A
ENST00000567461.5:c.-49G>A	ENSP00000456152.1:n.-49G>A
ENST00000567523.5:c.239G>A	ENSP00000456624.1:p.Cys80Tyr
ENST00000567740.5:n.313-2310G>A
ENST00000568597.5:c.225-2310G>A	ENSP00000454638.1:n.225-2310G>A
ENST00000568816.5:c.-49G>A	ENSP00000455021.1:n.-49G>A
ENST00000568963.5:c.97G>A	ENSP00000454438.1:p.Val33Ile
ENST00000569076.5:c.93G>A	ENSP00000454803.1:p.Leu31=
NM_001311255.1:c.258G>A	NP_001298184.1:p.Leu86=
NM_001311256.1:c.240-2310G>A	NP_001298185.1:n.240-2310G>A
NM_012388.2:c.243G>A	NP_036520.1:p.Leu81=
NM_012388.3:c.243G>A , LRG_883t1:c.243G>A	NP_036520.1:p.Leu81=
NR_132350.1:n.572G>A
NR_132351.1:n.560G>A
NR_132352.1:n.546-2310G>A
NR_132353.1:n.422G>A
NR_132354.1:n.418G>A
NR_132355.1:n.404-2310G>A
NR_132356.1:n.266G>A
NR_132357.1:n.266G>A
NR_132358.1:n.238-2310G>A
NR_132359.1:n.106-2310G>A
NM_012388.4:c.243G>A MANE Select	NP_036520.1:p.Leu81=
NR_132351.2:n.304G>A
NR_132352.2:n.290-2310G>A
NR_132355.2:n.148-2310G>A
NR_132356.2:n.266G>A
NR_132357.2:n.266G>A
NR_132359.2:n.106-2310G>A