Canonical Allele Identifier: CA367766362

Gene: HSPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304099C>A , CM000669.2:g.76304099C>A	GRCh38
NC_000007.13:g.75933416C>A , CM000669.1:g.75933416C>A	GRCh37
NC_000007.12:g.75771352C>A	NCBI36
NG_008995.1:g.6542C>A , LRG_248:g.6542C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001540.5:c.544C>A MANE Select	NP_001531.1:p.Pro182Thr
ENST00000248553.7:c.544C>A MANE Select	ENSP00000248553.6:p.Pro182Thr
NM_001540.3:c.544C>A , LRG_248t1:c.544C>A	NP_001531.1:p.Pro182Thr
NM_001540.4:c.544C>A	NP_001531.1:p.Pro182Thr
ENST00000248553.6:c.544C>A	ENSP00000248553.6:p.Pro182Thr
ENST00000429938.1:c.40C>A	ENSP00000405285.1:p.Pro14Thr
ENST00000447574.1:c.*708C>A	ENSP00000414357.1:n.*708C>A
ENST00000674547.1:c.*135C>A	ENSP00000502461.1:n.*135C>A
ENST00000674638.1:c.*65C>A	ENSP00000502651.1:n.*65C>A
ENST00000674650.1:c.*54C>A	ENSP00000501628.1:n.*54C>A
ENST00000674965.1:c.*200C>A	ENSP00000501765.1:n.*200C>A
ENST00000675134.1:c.523C>A	ENSP00000501831.1:p.Pro175Thr
ENST00000675226.1:c.*54C>A	ENSP00000502510.1:n.*54C>A
ENST00000675417.1:n.895C>A
ENST00000675538.1:c.*54C>A	ENSP00000502495.1:n.*54C>A
ENST00000675906.1:c.*129C>A	ENSP00000502714.1:n.*129C>A
ENST00000676231.1:c.574C>A	ENSP00000502249.1:p.Pro192Thr