Canonical Allele Identifier: CA4306347

Gene: HSPB1

Linked Data

• dbSNP Id: rs771050232
• ExAC: 7:75933102 C / A
• gnomAD v2: 7-75933102-C-A
• MyVariant Identifiers: chr7:g.75933102C>A (hg19) ; chr7:g.76303785C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303785C>A , CM000669.2:g.76303785C>A	GRCh38
NC_000007.13:g.75933102C>A , CM000669.1:g.75933102C>A	GRCh37
NC_000007.12:g.75771038C>A	NCBI36
NG_008995.1:g.6228C>A , LRG_248:g.6228C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-17C>A MANE Select	ENSP00000248553.6:n.365-17C>A
ENST00000674547.1:c.365-17C>A	ENSP00000502461.1:n.365-17C>A
ENST00000674638.1:c.365-22C>A	ENSP00000502651.1:n.365-22C>A
ENST00000674650.1:c.365-199C>A	ENSP00000501628.1:n.365-199C>A
ENST00000674965.1:c.*4C>A	ENSP00000501765.1:n.*4C>A
ENST00000675134.1:c.365-17C>A	ENSP00000501831.1:n.365-17C>A
ENST00000675226.1:c.369-22C>A	ENSP00000502510.1:n.369-22C>A
ENST00000675417.1:n.581C>A
ENST00000675538.1:c.400-17C>A	ENSP00000502495.1:n.400-17C>A
ENST00000675733.1:n.428C>A
ENST00000675906.1:c.365-17C>A	ENSP00000502714.1:n.365-17C>A
ENST00000676195.1:n.81-17C>A
ENST00000676231.1:c.395-17C>A	ENSP00000502249.1:n.395-17C>A
ENST00000248553.6:c.365-17C>A	ENSP00000248553.6:n.365-17C>A
ENST00000429938.1:c.-140-17C>A	ENSP00000405285.1:n.-140-17C>A
ENST00000447574.1:c.*512C>A	ENSP00000414357.1:n.*512C>A
NM_001540.3:c.365-17C>A , LRG_248t1:c.365-17C>A	NP_001531.1:n.365-17C>A
NM_001540.4:c.365-17C>A	NP_001531.1:n.365-17C>A
NM_001540.5:c.365-17C>A MANE Select	NP_001531.1:n.365-17C>A