Canonical Allele Identifier: CA362683867

Gene: BLOC1S5 EEF1E1-BLOC1S5 BLOC1S5-TXNDC5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.8064358C>A , CM000668.2:g.8064358C>A	GRCh38
NC_000006.11:g.8064591C>A , CM000668.1:g.8064591C>A	GRCh37
NC_000006.10:g.8009590C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397457.7:c.19G>T (BLOC1S5) MANE Select	ENSP00000380598.2:p.Glu7Ter
ENST00000543936.7:c.19G>T (BLOC1S5)	ENSP00000445215.2:p.Glu7Ter
ENST00000244777.6:c.19G>T (BLOC1S5)	ENSP00000244777.2:p.Glu7Ter
ENST00000397456.2:c.385-1742G>T (EEF1E1-BLOC1S5)	ENSP00000380597.2:n.385-1742G>T
ENST00000397457.6:c.19G>T (BLOC1S5)	ENSP00000380598.2:p.Glu7Ter
ENST00000439343.2:c.7G>T (BLOC1S5-TXNDC5)	ENSP00000454697.1:p.Glu3Ter
ENST00000543936.6:c.19G>T	ENSP00000445215.2:p.Glu7Ter
ENST00000627748.2:c.19G>T (BLOC1S5)	ENSP00000486019.1:p.Glu7Ter
NM_001199322.1:c.-277G>T (BLOC1S5)	NP_001186251.1:n.-277G>T
NM_001199323.1:c.19G>T (BLOC1S5)	NP_001186252.1:p.Glu7Ter
NM_201280.2:c.19G>T (BLOC1S5)	NP_958437.1:p.Glu7Ter
NR_037616.1:n.57G>T (BLOC1S5-TXNDC5)
NR_037618.1:n.459-1742G>T (EEF1E1-BLOC1S5)
NM_201280.3:c.19G>T (BLOC1S5) MANE Select	NP_958437.1:p.Glu7Ter