Canonical Allele Identifier: CA2683408076

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76303718-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303718C>T , CM000669.2:g.76303718C>T	GRCh38
NC_000007.13:g.75933035C>T , CM000669.1:g.75933035C>T	GRCh37
NC_000007.12:g.75770971C>T	NCBI36
NG_008995.1:g.6161C>T , LRG_248:g.6161C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-84C>T MANE Select	ENSP00000248553.6:n.365-84C>T
ENST00000674547.1:c.365-84C>T	ENSP00000502461.1:n.365-84C>T
ENST00000674638.1:c.365-89C>T	ENSP00000502651.1:n.365-89C>T
ENST00000674650.1:c.365-266C>T	ENSP00000501628.1:n.365-266C>T
ENST00000674965.1:c.365-59C>T	ENSP00000501765.1:n.365-59C>T
ENST00000675134.1:c.365-84C>T	ENSP00000501831.1:n.365-84C>T
ENST00000675226.1:c.369-89C>T	ENSP00000502510.1:n.369-89C>T
ENST00000675417.1:n.514C>T
ENST00000675538.1:c.400-84C>T	ENSP00000502495.1:n.400-84C>T
ENST00000675733.1:n.405-44C>T
ENST00000675906.1:c.365-84C>T	ENSP00000502714.1:n.365-84C>T
ENST00000676195.1:n.80+62C>T
ENST00000676231.1:c.385C>T	ENSP00000502249.1:p.Gln129Ter
ENST00000248553.6:c.365-84C>T	ENSP00000248553.6:n.365-84C>T
ENST00000429938.1:c.-150C>T	ENSP00000405285.1:n.-150C>T
ENST00000447574.1:c.*445C>T	ENSP00000414357.1:n.*445C>T
NM_001540.3:c.365-84C>T , LRG_248t1:c.365-84C>T	NP_001531.1:n.365-84C>T
NM_001540.4:c.365-84C>T	NP_001531.1:n.365-84C>T
NM_001540.5:c.365-84C>T MANE Select	NP_001531.1:n.365-84C>T