Canonical Allele Identifier: CA1103330253

Gene: HSPB1

Linked Data

• dbSNP Id: rs1803054868
• gnomAD v3: 7-76303699-C-T
• gnomAD v4: 7-76303699-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303699C>T , CM000669.2:g.76303699C>T	GRCh38
NC_000007.13:g.75933016C>T , CM000669.1:g.75933016C>T	GRCh37
NC_000007.12:g.75770952C>T	NCBI36
NG_008995.1:g.6142C>T , LRG_248:g.6142C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-103C>T MANE Select	ENSP00000248553.6:n.365-103C>T
ENST00000674547.1:c.365-103C>T	ENSP00000502461.1:n.365-103C>T
ENST00000674638.1:c.365-108C>T	ENSP00000502651.1:n.365-108C>T
ENST00000674650.1:c.365-285C>T	ENSP00000501628.1:n.365-285C>T
ENST00000674965.1:c.365-78C>T	ENSP00000501765.1:n.365-78C>T
ENST00000675134.1:c.365-103C>T	ENSP00000501831.1:n.365-103C>T
ENST00000675226.1:c.369-108C>T	ENSP00000502510.1:n.369-108C>T
ENST00000675417.1:n.495C>T
ENST00000675538.1:c.400-103C>T	ENSP00000502495.1:n.400-103C>T
ENST00000675733.1:n.405-63C>T
ENST00000675906.1:c.365-103C>T	ENSP00000502714.1:n.365-103C>T
ENST00000676195.1:n.80+43C>T
ENST00000676231.1:c.366C>T	ENSP00000502249.1:p.Ala122=
ENST00000248553.6:c.365-103C>T	ENSP00000248553.6:n.365-103C>T
ENST00000429938.1:c.-169C>T	ENSP00000405285.1:n.-169C>T
ENST00000447574.1:c.*426C>T	ENSP00000414357.1:n.*426C>T
NM_001540.3:c.365-103C>T , LRG_248t1:c.365-103C>T	NP_001531.1:n.365-103C>T
NM_001540.4:c.365-103C>T	NP_001531.1:n.365-103C>T
NM_001540.5:c.365-103C>T MANE Select	NP_001531.1:n.365-103C>T