Canonical Allele Identifier: CA2683408207

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76303765-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303765C>T , CM000669.2:g.76303765C>T	GRCh38
NC_000007.13:g.75933082C>T , CM000669.1:g.75933082C>T	GRCh37
NC_000007.12:g.75771018C>T	NCBI36
NG_008995.1:g.6208C>T , LRG_248:g.6208C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-37C>T MANE Select	ENSP00000248553.6:n.365-37C>T
ENST00000674547.1:c.365-37C>T	ENSP00000502461.1:n.365-37C>T
ENST00000674638.1:c.365-42C>T	ENSP00000502651.1:n.365-42C>T
ENST00000674650.1:c.365-219C>T	ENSP00000501628.1:n.365-219C>T
ENST00000674965.1:c.365-12C>T	ENSP00000501765.1:n.365-12C>T
ENST00000675134.1:c.365-37C>T	ENSP00000501831.1:n.365-37C>T
ENST00000675226.1:c.369-42C>T	ENSP00000502510.1:n.369-42C>T
ENST00000675417.1:n.561C>T
ENST00000675538.1:c.400-37C>T	ENSP00000502495.1:n.400-37C>T
ENST00000675733.1:n.408C>T
ENST00000675906.1:c.365-37C>T	ENSP00000502714.1:n.365-37C>T
ENST00000676195.1:n.81-37C>T
ENST00000676231.1:c.395-37C>T	ENSP00000502249.1:n.395-37C>T
ENST00000248553.6:c.365-37C>T	ENSP00000248553.6:n.365-37C>T
ENST00000429938.1:c.-140-37C>T	ENSP00000405285.1:n.-140-37C>T
ENST00000447574.1:c.*492C>T	ENSP00000414357.1:n.*492C>T
NM_001540.3:c.365-37C>T , LRG_248t1:c.365-37C>T	NP_001531.1:n.365-37C>T
NM_001540.4:c.365-37C>T	NP_001531.1:n.365-37C>T
NM_001540.5:c.365-37C>T MANE Select	NP_001531.1:n.365-37C>T