Canonical Allele Identifier: CA842327312

Gene: HSPB1

Linked Data

• dbSNP Id: rs1308568539
• gnomAD v3: 7-76303737-C-T
• gnomAD v4: 7-76303737-C-T
• MyVariant Identifiers: chr7:g.75933054C>T (hg19) ; chr7:g.76303737C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303737C>T , CM000669.2:g.76303737C>T	GRCh38
NC_000007.13:g.75933054C>T , CM000669.1:g.75933054C>T	GRCh37
NC_000007.12:g.75770990C>T	NCBI36
NG_008995.1:g.6180C>T , LRG_248:g.6180C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-65C>T MANE Select	ENSP00000248553.6:n.365-65C>T
ENST00000674547.1:c.365-65C>T	ENSP00000502461.1:n.365-65C>T
ENST00000674638.1:c.365-70C>T	ENSP00000502651.1:n.365-70C>T
ENST00000674650.1:c.365-247C>T	ENSP00000501628.1:n.365-247C>T
ENST00000674965.1:c.365-40C>T	ENSP00000501765.1:n.365-40C>T
ENST00000675134.1:c.365-65C>T	ENSP00000501831.1:n.365-65C>T
ENST00000675226.1:c.369-70C>T	ENSP00000502510.1:n.369-70C>T
ENST00000675417.1:n.533C>T
ENST00000675538.1:c.400-65C>T	ENSP00000502495.1:n.400-65C>T
ENST00000675733.1:n.405-25C>T
ENST00000675906.1:c.365-65C>T	ENSP00000502714.1:n.365-65C>T
ENST00000676195.1:n.81-65C>T
ENST00000676231.1:c.394+10C>T	ENSP00000502249.1:n.394+10C>T
ENST00000248553.6:c.365-65C>T	ENSP00000248553.6:n.365-65C>T
ENST00000429938.1:c.-141+10C>T	ENSP00000405285.1:n.-141+10C>T
ENST00000447574.1:c.*464C>T	ENSP00000414357.1:n.*464C>T
NM_001540.3:c.365-65C>T , LRG_248t1:c.365-65C>T	NP_001531.1:n.365-65C>T
NM_001540.4:c.365-65C>T	NP_001531.1:n.365-65C>T
NM_001540.5:c.365-65C>T MANE Select	NP_001531.1:n.365-65C>T