Canonical Allele Identifier: CA490291933

Gene: BLOC1S6

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45606502C>T , CM000677.2:g.45606502C>T	GRCh38
NC_000015.9:g.45898700C>T , CM000677.1:g.45898700C>T	GRCh37
NC_000015.8:g.43685992C>T	NCBI36
NG_028194.2:g.24284C>T , LRG_883:g.24284C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220531.9:c.507C>T MANE Select	ENSP00000220531.4:p.Ala169=
ENST00000564310.2:c.328+988C>T
ENST00000565323.6:c.522C>T	ENSP00000456851.1:p.Ala174=
ENST00000220531.7:c.507C>T	ENSP00000220531.3:p.Ala169=
ENST00000562384.5:c.216C>T	ENSP00000457077.1:p.Ala72=
ENST00000563000.5:n.432C>T
ENST00000563160.5:n.388C>T
ENST00000564080.1:c.-18+18977C>T	ENSP00000455047.1:n.-18+18977C>T
ENST00000564310.1:c.324+988C>T
ENST00000564765.1:c.129C>T	ENSP00000454537.1:p.Ala43=
ENST00000565216.5:c.384C>T	ENSP00000456067.1:p.Ala128=
ENST00000565323.5:c.522C>T	ENSP00000456851.1:p.Ala174=
ENST00000565409.5:c.216C>T	ENSP00000455599.1:p.Ala72=
ENST00000565727.5:n.300C>T
ENST00000567461.5:c.216C>T	ENSP00000456152.1:p.Ala72=
ENST00000567523.5:c.*260C>T	ENSP00000456624.1:n.*260C>T
ENST00000567740.5:n.507C>T
ENST00000568597.5:c.*158C>T	ENSP00000454638.1:n.*158C>T
ENST00000568816.5:c.216C>T	ENSP00000455021.1:p.Ala72=
ENST00000568963.5:c.*229C>T	ENSP00000454438.1:n.*229C>T
NM_001311255.1:c.522C>T	NP_001298184.1:p.Ala174=
NM_001311256.1:c.*158C>T	NP_001298185.1:n.*158C>T
NM_012388.2:c.507C>T	NP_036520.1:p.Ala169=
NM_012388.3:c.507C>T , LRG_883t1:c.507C>T	NP_036520.1:p.Ala169=
NR_132350.1:n.836C>T
NR_132351.1:n.824C>T
NR_132352.1:n.740C>T
NR_132353.1:n.686C>T
NR_132354.1:n.682C>T
NR_132355.1:n.598C>T
NR_132356.1:n.530C>T
NR_132357.1:n.443C>T
NR_132358.1:n.432C>T
NR_132359.1:n.300C>T
NM_012388.4:c.507C>T MANE Select	NP_036520.1:p.Ala169=
NR_132351.2:n.568C>T
NR_132352.2:n.484C>T
NR_132355.2:n.342C>T
NR_132356.2:n.530C>T
NR_132357.2:n.443C>T
NR_132359.2:n.300C>T