Canonical Allele Identifier: CA367767133

Gene: HSPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304115C>T , CM000669.2:g.76304115C>T	GRCh38
NC_000007.13:g.75933432C>T , CM000669.1:g.75933432C>T	GRCh37
NC_000007.12:g.75771368C>T	NCBI36
NG_008995.1:g.6558C>T , LRG_248:g.6558C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001540.5:c.560C>T MANE Select	NP_001531.1:p.Ser187Leu
ENST00000248553.7:c.560C>T MANE Select	ENSP00000248553.6:p.Ser187Leu
NM_001540.3:c.560C>T , LRG_248t1:c.560C>T	NP_001531.1:p.Ser187Leu
NM_001540.4:c.560C>T	NP_001531.1:p.Ser187Leu
ENST00000248553.6:c.560C>T	ENSP00000248553.6:p.Ser187Leu
ENST00000429938.1:c.56C>T	ENSP00000405285.1:p.Ser19Leu
ENST00000447574.1:c.*724C>T	ENSP00000414357.1:n.*724C>T
ENST00000674547.1:c.*151C>T	ENSP00000502461.1:n.*151C>T
ENST00000674638.1:c.*81C>T	ENSP00000502651.1:n.*81C>T
ENST00000674650.1:c.*70C>T	ENSP00000501628.1:n.*70C>T
ENST00000674965.1:c.*216C>T	ENSP00000501765.1:n.*216C>T
ENST00000675134.1:c.539C>T	ENSP00000501831.1:p.Ser180Leu
ENST00000675226.1:c.*70C>T	ENSP00000502510.1:n.*70C>T
ENST00000675417.1:n.911C>T
ENST00000675538.1:c.*70C>T	ENSP00000502495.1:n.*70C>T
ENST00000675906.1:c.*145C>T	ENSP00000502714.1:n.*145C>T
ENST00000676231.1:c.590C>T	ENSP00000502249.1:p.Ser197Leu