Canonical Allele Identifier: CA367765600

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76303865-C-T
• MyVariant Identifiers: chr7:g.75933182C>T (hg19) ; chr7:g.76303865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303865C>T , CM000669.2:g.76303865C>T	GRCh38
NC_000007.13:g.75933182C>T , CM000669.1:g.75933182C>T	GRCh37
NC_000007.12:g.75771118C>T	NCBI36
NG_008995.1:g.6308C>T , LRG_248:g.6308C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.428C>T MANE Select	ENSP00000248553.6:p.Thr143Met
ENST00000674547.1:c.428C>T	ENSP00000502461.1:p.Thr143Met
ENST00000674638.1:c.423C>T	ENSP00000502651.1:p.His141=
ENST00000674650.1:c.365-119C>T	ENSP00000501628.1:n.365-119C>T
ENST00000674965.1:c.*84C>T	ENSP00000501765.1:n.*84C>T
ENST00000675134.1:c.407+21C>T	ENSP00000501831.1:n.407+21C>T
ENST00000675226.1:c.427C>T	ENSP00000502510.1:p.Arg143Cys
ENST00000675417.1:n.661C>T
ENST00000675538.1:c.463C>T	ENSP00000502495.1:p.Arg155Cys
ENST00000675906.1:c.428C>T	ENSP00000502714.1:p.Thr143Met
ENST00000676195.1:n.144C>T
ENST00000676231.1:c.458C>T	ENSP00000502249.1:p.Thr153Met
ENST00000248553.6:c.428C>T	ENSP00000248553.6:p.Thr143Met
ENST00000429938.1:c.-77C>T	ENSP00000405285.1:n.-77C>T
ENST00000447574.1:c.*592C>T	ENSP00000414357.1:n.*592C>T
NM_001540.3:c.428C>T , LRG_248t1:c.428C>T	NP_001531.1:p.Thr143Met
NM_001540.4:c.428C>T	NP_001531.1:p.Thr143Met
NM_001540.5:c.428C>T MANE Select	NP_001531.1:p.Thr143Met