Canonical Allele Identifier: CA392300338

Gene: BLOC1S6

Linked Data

• MyVariant Identifiers: chr15:g.45895311G>T (hg19) ; chr15:g.45603113G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45603113G>T , CM000677.2:g.45603113G>T	GRCh38
NC_000015.9:g.45895311G>T , CM000677.1:g.45895311G>T	GRCh37
NC_000015.8:g.43682603G>T	NCBI36
NG_028194.2:g.20895G>T , LRG_883:g.20895G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000220531.9:c.238G>T MANE Select	ENSP00000220531.4:p.Val80Leu
ENST00000564310.2:c.167G>T
ENST00000565323.6:c.253G>T	ENSP00000456851.1:p.Val85Leu
ENST00000672455.1:c.*231G>T	ENSP00000500302.1:n.*231G>T
ENST00000220531.7:c.238G>T	ENSP00000220531.3:p.Val80Leu
ENST00000562384.5:c.-54G>T	ENSP00000457077.1:n.-54G>T
ENST00000563000.5:n.238-2315G>T
ENST00000563160.5:n.194-2315G>T
ENST00000564080.1:c.-18+15588G>T	ENSP00000455047.1:n.-18+15588G>T
ENST00000564310.1:c.163G>T
ENST00000564765.1:c.-54G>T	ENSP00000454537.1:n.-54G>T
ENST00000565216.5:c.115G>T	ENSP00000456067.1:p.Val39Leu
ENST00000565323.5:c.253G>T	ENSP00000456851.1:p.Val85Leu
ENST00000565409.5:c.-54G>T	ENSP00000455599.1:n.-54G>T
ENST00000565727.5:n.106-2315G>T
ENST00000566184.1:n.148-2315G>T
ENST00000566801.5:c.-54G>T	ENSP00000454715.1:n.-54G>T
ENST00000567461.5:c.-54G>T	ENSP00000456152.1:n.-54G>T
ENST00000567523.5:c.234G>T	ENSP00000456624.1:p.Leu78Phe
ENST00000567740.5:n.313-2315G>T
ENST00000568597.5:c.225-2315G>T	ENSP00000454638.1:n.225-2315G>T
ENST00000568816.5:c.-54G>T	ENSP00000455021.1:n.-54G>T
ENST00000568963.5:c.92G>T	ENSP00000454438.1:p.Cys31Phe
ENST00000569076.5:c.88G>T	ENSP00000454803.1:p.Val30Leu
NM_001311255.1:c.253G>T	NP_001298184.1:p.Val85Leu
NM_001311256.1:c.240-2315G>T	NP_001298185.1:n.240-2315G>T
NM_012388.2:c.238G>T	NP_036520.1:p.Val80Leu
NM_012388.3:c.238G>T , LRG_883t1:c.238G>T	NP_036520.1:p.Val80Leu
NR_132350.1:n.567G>T
NR_132351.1:n.555G>T
NR_132352.1:n.546-2315G>T
NR_132353.1:n.417G>T
NR_132354.1:n.413G>T
NR_132355.1:n.404-2315G>T
NR_132356.1:n.261G>T
NR_132357.1:n.261G>T
NR_132358.1:n.238-2315G>T
NR_132359.1:n.106-2315G>T
NM_012388.4:c.238G>T MANE Select	NP_036520.1:p.Val80Leu
NR_132351.2:n.299G>T
NR_132352.2:n.290-2315G>T
NR_132355.2:n.148-2315G>T
NR_132356.2:n.261G>T
NR_132357.2:n.261G>T
NR_132359.2:n.106-2315G>T