Canonical Allele Identifier: CA392300350

Gene: BLOC1S6

Linked Data

• ClinVar Variation Id: 2828875
• ClinVar RCV Id: RCV003641657
• MyVariant Identifiers: chr15:g.45895318T>A (hg19) ; chr15:g.45603120T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45603120T>A , CM000677.2:g.45603120T>A	GRCh38
NC_000015.9:g.45895318T>A , CM000677.1:g.45895318T>A	GRCh37
NC_000015.8:g.43682610T>A	NCBI36
NG_028194.2:g.20902T>A , LRG_883:g.20902T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000220531.9:c.245T>A MANE Select	ENSP00000220531.4:p.Leu82Ter
ENST00000564310.2:c.174T>A
ENST00000565323.6:c.260T>A	ENSP00000456851.1:p.Leu87Ter
ENST00000672455.1:c.*238T>A	ENSP00000500302.1:n.*238T>A
ENST00000220531.7:c.245T>A	ENSP00000220531.3:p.Leu82Ter
ENST00000562384.5:c.-47T>A	ENSP00000457077.1:n.-47T>A
ENST00000563000.5:n.238-2308T>A
ENST00000563160.5:n.194-2308T>A
ENST00000564080.1:c.-18+15595T>A	ENSP00000455047.1:n.-18+15595T>A
ENST00000564310.1:c.170T>A
ENST00000564765.1:c.-47T>A	ENSP00000454537.1:n.-47T>A
ENST00000565216.5:c.122T>A	ENSP00000456067.1:p.Leu41Ter
ENST00000565323.5:c.260T>A	ENSP00000456851.1:p.Leu87Ter
ENST00000565409.5:c.-47T>A	ENSP00000455599.1:n.-47T>A
ENST00000565727.5:n.106-2308T>A
ENST00000566184.1:n.148-2308T>A
ENST00000566801.5:c.-47T>A	ENSP00000454715.1:n.-47T>A
ENST00000567461.5:c.-47T>A	ENSP00000456152.1:n.-47T>A
ENST00000567523.5:c.241T>A	ENSP00000456624.1:p.Ter81Lys
ENST00000567740.5:n.313-2308T>A
ENST00000568597.5:c.225-2308T>A	ENSP00000454638.1:n.225-2308T>A
ENST00000568816.5:c.-47T>A	ENSP00000455021.1:n.-47T>A
ENST00000568963.5:c.99T>A	ENSP00000454438.1:p.Val33=
ENST00000569076.5:c.95T>A	ENSP00000454803.1:p.Leu32Ter
NM_001311255.1:c.260T>A	NP_001298184.1:p.Leu87Ter
NM_001311256.1:c.240-2308T>A	NP_001298185.1:n.240-2308T>A
NM_012388.2:c.245T>A	NP_036520.1:p.Leu82Ter
NM_012388.3:c.245T>A , LRG_883t1:c.245T>A	NP_036520.1:p.Leu82Ter
NR_132350.1:n.574T>A
NR_132351.1:n.562T>A
NR_132352.1:n.546-2308T>A
NR_132353.1:n.424T>A
NR_132354.1:n.420T>A
NR_132355.1:n.404-2308T>A
NR_132356.1:n.268T>A
NR_132357.1:n.268T>A
NR_132358.1:n.238-2308T>A
NR_132359.1:n.106-2308T>A
NM_012388.4:c.245T>A MANE Select	NP_036520.1:p.Leu82Ter
NR_132351.2:n.306T>A
NR_132352.2:n.290-2308T>A
NR_132355.2:n.148-2308T>A
NR_132356.2:n.268T>A
NR_132357.2:n.268T>A
NR_132359.2:n.106-2308T>A