Canonical Allele Identifier: CA2683408223

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76303769-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303769C>T , CM000669.2:g.76303769C>T	GRCh38
NC_000007.13:g.75933086C>T , CM000669.1:g.75933086C>T	GRCh37
NC_000007.12:g.75771022C>T	NCBI36
NG_008995.1:g.6212C>T , LRG_248:g.6212C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-33C>T MANE Select	ENSP00000248553.6:n.365-33C>T
ENST00000674547.1:c.365-33C>T	ENSP00000502461.1:n.365-33C>T
ENST00000674638.1:c.365-38C>T	ENSP00000502651.1:n.365-38C>T
ENST00000674650.1:c.365-215C>T	ENSP00000501628.1:n.365-215C>T
ENST00000674965.1:c.365-8C>T	ENSP00000501765.1:n.365-8C>T
ENST00000675134.1:c.365-33C>T	ENSP00000501831.1:n.365-33C>T
ENST00000675226.1:c.369-38C>T	ENSP00000502510.1:n.369-38C>T
ENST00000675417.1:n.565C>T
ENST00000675538.1:c.400-33C>T	ENSP00000502495.1:n.400-33C>T
ENST00000675733.1:n.412C>T
ENST00000675906.1:c.365-33C>T	ENSP00000502714.1:n.365-33C>T
ENST00000676195.1:n.81-33C>T
ENST00000676231.1:c.395-33C>T	ENSP00000502249.1:n.395-33C>T
ENST00000248553.6:c.365-33C>T	ENSP00000248553.6:n.365-33C>T
ENST00000429938.1:c.-140-33C>T	ENSP00000405285.1:n.-140-33C>T
ENST00000447574.1:c.*496C>T	ENSP00000414357.1:n.*496C>T
NM_001540.3:c.365-33C>T , LRG_248t1:c.365-33C>T	NP_001531.1:n.365-33C>T
NM_001540.4:c.365-33C>T	NP_001531.1:n.365-33C>T
NM_001540.5:c.365-33C>T MANE Select	NP_001531.1:n.365-33C>T