Canonical Allele Identifier: CA4306384

Gene: HSPB1

Linked Data

• dbSNP Id: rs781518222
• ExAC: 7:75933180 C / A
• gnomAD v2: 7-75933180-C-A
• MyVariant Identifiers: chr7:g.75933180C>A (hg19) ; chr7:g.76303863C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303863C>A , CM000669.2:g.76303863C>A	GRCh38
NC_000007.13:g.75933180C>A , CM000669.1:g.75933180C>A	GRCh37
NC_000007.12:g.75771116C>A	NCBI36
NG_008995.1:g.6306C>A , LRG_248:g.6306C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.426C>A MANE Select	ENSP00000248553.6:p.Tyr142Ter
ENST00000674547.1:c.426C>A	ENSP00000502461.1:p.Tyr142Ter
ENST00000674638.1:c.421C>A	ENSP00000502651.1:p.His141Asn
ENST00000674650.1:c.365-121C>A	ENSP00000501628.1:n.365-121C>A
ENST00000674965.1:c.*82C>A	ENSP00000501765.1:n.*82C>A
ENST00000675134.1:c.407+19C>A	ENSP00000501831.1:n.407+19C>A
ENST00000675226.1:c.425C>A	ENSP00000502510.1:p.Thr142Lys
ENST00000675417.1:n.659C>A
ENST00000675538.1:c.461C>A	ENSP00000502495.1:p.Thr154Lys
ENST00000675906.1:c.426C>A	ENSP00000502714.1:p.Tyr142Ter
ENST00000676195.1:n.142C>A
ENST00000676231.1:c.456C>A	ENSP00000502249.1:p.Tyr152Ter
ENST00000248553.6:c.426C>A	ENSP00000248553.6:p.Tyr142Ter
ENST00000429938.1:c.-79C>A	ENSP00000405285.1:n.-79C>A
ENST00000447574.1:c.*590C>A	ENSP00000414357.1:n.*590C>A
NM_001540.3:c.426C>A , LRG_248t1:c.426C>A	NP_001531.1:p.Tyr142Ter
NM_001540.4:c.426C>A	NP_001531.1:p.Tyr142Ter
NM_001540.5:c.426C>A MANE Select	NP_001531.1:p.Tyr142Ter