Canonical Allele Identifier: CA490290412

Gene: BLOC1S6

Linked Data

• MyVariant Identifiers: chr15:g.45895317T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45603119T>C , CM000677.2:g.45603119T>C	GRCh38
NC_000015.9:g.45895317T>C , CM000677.1:g.45895317T>C	GRCh37
NC_000015.8:g.43682609T>C	NCBI36
NG_028194.2:g.20901T>C , LRG_883:g.20901T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000220531.9:c.244T>C MANE Select	ENSP00000220531.4:p.Leu82=
ENST00000564310.2:c.173T>C
ENST00000565323.6:c.259T>C	ENSP00000456851.1:p.Leu87=
ENST00000672455.1:c.*237T>C	ENSP00000500302.1:n.*237T>C
ENST00000220531.7:c.244T>C	ENSP00000220531.3:p.Leu82=
ENST00000562384.5:c.-48T>C	ENSP00000457077.1:n.-48T>C
ENST00000563000.5:n.238-2309T>C
ENST00000563160.5:n.194-2309T>C
ENST00000564080.1:c.-18+15594T>C	ENSP00000455047.1:n.-18+15594T>C
ENST00000564310.1:c.169T>C
ENST00000564765.1:c.-48T>C	ENSP00000454537.1:n.-48T>C
ENST00000565216.5:c.121T>C	ENSP00000456067.1:p.Leu41=
ENST00000565323.5:c.259T>C	ENSP00000456851.1:p.Leu87=
ENST00000565409.5:c.-48T>C	ENSP00000455599.1:n.-48T>C
ENST00000565727.5:n.106-2309T>C
ENST00000566184.1:n.148-2309T>C
ENST00000566801.5:c.-48T>C	ENSP00000454715.1:n.-48T>C
ENST00000567461.5:c.-48T>C	ENSP00000456152.1:n.-48T>C
ENST00000567523.5:c.240T>C	ENSP00000456624.1:p.Cys80=
ENST00000567740.5:n.313-2309T>C
ENST00000568597.5:c.225-2309T>C	ENSP00000454638.1:n.225-2309T>C
ENST00000568816.5:c.-48T>C	ENSP00000455021.1:n.-48T>C
ENST00000568963.5:c.98T>C	ENSP00000454438.1:p.Val33Ala
ENST00000569076.5:c.94T>C	ENSP00000454803.1:p.Leu32=
NM_001311255.1:c.259T>C	NP_001298184.1:p.Leu87=
NM_001311256.1:c.240-2309T>C	NP_001298185.1:n.240-2309T>C
NM_012388.2:c.244T>C	NP_036520.1:p.Leu82=
NM_012388.3:c.244T>C , LRG_883t1:c.244T>C	NP_036520.1:p.Leu82=
NR_132350.1:n.573T>C
NR_132351.1:n.561T>C
NR_132352.1:n.546-2309T>C
NR_132353.1:n.423T>C
NR_132354.1:n.419T>C
NR_132355.1:n.404-2309T>C
NR_132356.1:n.267T>C
NR_132357.1:n.267T>C
NR_132358.1:n.238-2309T>C
NR_132359.1:n.106-2309T>C
NM_012388.4:c.244T>C MANE Select	NP_036520.1:p.Leu82=
NR_132351.2:n.305T>C
NR_132352.2:n.290-2309T>C
NR_132355.2:n.148-2309T>C
NR_132356.2:n.267T>C
NR_132357.2:n.267T>C
NR_132359.2:n.106-2309T>C