Canonical Allele Identifier: CA386529591

Gene: HSPB8

Linked Data

• MyVariant Identifiers: chr12:g.119624888A>C (hg19) ; chr12:g.119187083A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.119187083A>C , CM000674.2:g.119187083A>C	GRCh38
NC_000012.11:g.119624888A>C , CM000674.1:g.119624888A>C	GRCh37
NC_000012.10:g.118109271A>C	NCBI36
NG_007953.2:g.13294A>C , LRG_249:g.13294A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281938.7:c.426A>C MANE Select	ENSP00000281938.3:p.Lys142Asn
ENST00000674542.1:c.368-6616A>C	ENSP00000502352.1:n.368-6616A>C
ENST00000674715.1:n.599A>C
ENST00000674763.1:c.59A>C
ENST00000674852.1:c.59A>C
ENST00000675110.1:c.59A>C
ENST00000675211.1:c.59A>C
ENST00000675573.1:c.59A>C
ENST00000675900.1:n.21+5047A>C
ENST00000676071.1:n.159A>C
ENST00000676244.1:n.132A>C
ENST00000281938.6:c.426A>C	ENSP00000281938.2:p.Lys142Asn
ENST00000541798.1:c.149A>C
ENST00000542496.1:n.284A>C
NM_014365.2:c.426A>C , LRG_249t1:c.426A>C	NP_055180.1:p.Lys142Asn
NM_014365.3:c.426A>C MANE Select	NP_055180.1:p.Lys142Asn