Canonical Allele Identifier: CA367767224

Gene: HSPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304125G>T , CM000669.2:g.76304125G>T	GRCh38
NC_000007.13:g.75933442G>T , CM000669.1:g.75933442G>T	GRCh37
NC_000007.12:g.75771378G>T	NCBI36
NG_008995.1:g.6568G>T , LRG_248:g.6568G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001540.5:c.570G>T MANE Select	NP_001531.1:p.Gln190His
ENST00000248553.7:c.570G>T MANE Select	ENSP00000248553.6:p.Gln190His
NM_001540.3:c.570G>T , LRG_248t1:c.570G>T	NP_001531.1:p.Gln190His
NM_001540.4:c.570G>T	NP_001531.1:p.Gln190His
ENST00000248553.6:c.570G>T	ENSP00000248553.6:p.Gln190His
ENST00000429938.1:c.66G>T	ENSP00000405285.1:p.Gln22His
ENST00000447574.1:c.*734G>T	ENSP00000414357.1:n.*734G>T
ENST00000674547.1:c.*161G>T	ENSP00000502461.1:n.*161G>T
ENST00000674638.1:c.*91G>T	ENSP00000502651.1:n.*91G>T
ENST00000674650.1:c.*80G>T	ENSP00000501628.1:n.*80G>T
ENST00000674965.1:c.*226G>T	ENSP00000501765.1:n.*226G>T
ENST00000675134.1:c.549G>T	ENSP00000501831.1:p.Gln183His
ENST00000675226.1:c.*80G>T	ENSP00000502510.1:n.*80G>T
ENST00000675417.1:n.921G>T
ENST00000675538.1:c.*80G>T	ENSP00000502495.1:n.*80G>T
ENST00000675906.1:c.*155G>T	ENSP00000502714.1:n.*155G>T
ENST00000676231.1:c.600G>T	ENSP00000502249.1:p.Gln200His