Canonical Allele Identifier: CA392300353

Gene: BLOC1S6

Linked Data

• MyVariant Identifiers: chr15:g.45895319A>C (hg19) ; chr15:g.45603121A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45603121A>C , CM000677.2:g.45603121A>C	GRCh38
NC_000015.9:g.45895319A>C , CM000677.1:g.45895319A>C	GRCh37
NC_000015.8:g.43682611A>C	NCBI36
NG_028194.2:g.20903A>C , LRG_883:g.20903A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000220531.9:c.246A>C MANE Select	ENSP00000220531.4:p.Leu82Phe
ENST00000564310.2:c.175A>C
ENST00000565323.6:c.261A>C	ENSP00000456851.1:p.Leu87Phe
ENST00000672455.1:c.*239A>C	ENSP00000500302.1:n.*239A>C
ENST00000220531.7:c.246A>C	ENSP00000220531.3:p.Leu82Phe
ENST00000562384.5:c.-46A>C	ENSP00000457077.1:n.-46A>C
ENST00000563000.5:n.238-2307A>C
ENST00000563160.5:n.194-2307A>C
ENST00000564080.1:c.-18+15596A>C	ENSP00000455047.1:n.-18+15596A>C
ENST00000564310.1:c.171A>C
ENST00000564765.1:c.-46A>C	ENSP00000454537.1:n.-46A>C
ENST00000565216.5:c.123A>C	ENSP00000456067.1:p.Leu41Phe
ENST00000565323.5:c.261A>C	ENSP00000456851.1:p.Leu87Phe
ENST00000565409.5:c.-46A>C	ENSP00000455599.1:n.-46A>C
ENST00000565727.5:n.106-2307A>C
ENST00000566184.1:n.148-2307A>C
ENST00000566801.5:c.-46A>C	ENSP00000454715.1:n.-46A>C
ENST00000567461.5:c.-46A>C	ENSP00000456152.1:n.-46A>C
ENST00000567523.5:c.242A>C	ENSP00000456624.1:p.Ter81Ser
ENST00000567740.5:n.313-2307A>C
ENST00000568597.5:c.225-2307A>C	ENSP00000454638.1:n.225-2307A>C
ENST00000568816.5:c.-46A>C	ENSP00000455021.1:n.-46A>C
ENST00000568963.5:c.100A>C	ENSP00000454438.1:p.Arg34=
ENST00000569076.5:c.96A>C	ENSP00000454803.1:p.Leu32Phe
NM_001311255.1:c.261A>C	NP_001298184.1:p.Leu87Phe
NM_001311256.1:c.240-2307A>C	NP_001298185.1:n.240-2307A>C
NM_012388.2:c.246A>C	NP_036520.1:p.Leu82Phe
NM_012388.3:c.246A>C , LRG_883t1:c.246A>C	NP_036520.1:p.Leu82Phe
NR_132350.1:n.575A>C
NR_132351.1:n.563A>C
NR_132352.1:n.546-2307A>C
NR_132353.1:n.425A>C
NR_132354.1:n.421A>C
NR_132355.1:n.404-2307A>C
NR_132356.1:n.269A>C
NR_132357.1:n.269A>C
NR_132358.1:n.238-2307A>C
NR_132359.1:n.106-2307A>C
NM_012388.4:c.246A>C MANE Select	NP_036520.1:p.Leu82Phe
NR_132351.2:n.307A>C
NR_132352.2:n.290-2307A>C
NR_132355.2:n.148-2307A>C
NR_132356.2:n.269A>C
NR_132357.2:n.269A>C
NR_132359.2:n.106-2307A>C