Canonical Allele Identifier: CA386529581

Gene: HSPB8

Linked Data

• MyVariant Identifiers: chr12:g.119624886A>T (hg19) ; chr12:g.119187081A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.119187081A>T , CM000674.2:g.119187081A>T	GRCh38
NC_000012.11:g.119624886A>T , CM000674.1:g.119624886A>T	GRCh37
NC_000012.10:g.118109269A>T	NCBI36
NG_007953.2:g.13292A>T , LRG_249:g.13292A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281938.7:c.424A>T MANE Select	ENSP00000281938.3:p.Lys142Ter
ENST00000674542.1:c.368-6618A>T	ENSP00000502352.1:n.368-6618A>T
ENST00000674715.1:n.597A>T
ENST00000674763.1:c.57A>T
ENST00000674852.1:c.57A>T
ENST00000675110.1:c.57A>T
ENST00000675211.1:c.57A>T
ENST00000675573.1:c.57A>T
ENST00000675900.1:n.21+5045A>T
ENST00000676071.1:n.157A>T
ENST00000676244.1:n.130A>T
ENST00000281938.6:c.424A>T	ENSP00000281938.2:p.Lys142Ter
ENST00000541798.1:c.147A>T
ENST00000542496.1:n.282A>T
NM_014365.2:c.424A>T , LRG_249t1:c.424A>T	NP_055180.1:p.Lys142Ter
NM_014365.3:c.424A>T MANE Select	NP_055180.1:p.Lys142Ter