Canonical Allele Identifier: CA367765283

Gene: HSPB1

Linked Data

• dbSNP Id: rs1803058316
• gnomAD v3: 7-76303807-C-T
• gnomAD v4: 7-76303807-C-T
• MyVariant Identifiers: chr7:g.75933124C>T (hg19) ; chr7:g.76303807C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303807C>T , CM000669.2:g.76303807C>T	GRCh38
NC_000007.13:g.75933124C>T , CM000669.1:g.75933124C>T	GRCh37
NC_000007.12:g.75771060C>T	NCBI36
NG_008995.1:g.6250C>T , LRG_248:g.6250C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.370C>T MANE Select	ENSP00000248553.6:p.His124Tyr
ENST00000674547.1:c.370C>T	ENSP00000502461.1:p.His124Tyr
ENST00000674638.1:c.365C>T	ENSP00000502651.1:p.Ala122Val
ENST00000674650.1:c.365-177C>T	ENSP00000501628.1:n.365-177C>T
ENST00000674965.1:c.*26C>T	ENSP00000501765.1:n.*26C>T
ENST00000675134.1:c.370C>T	ENSP00000501831.1:p.His124Tyr
ENST00000675226.1:c.369C>T	ENSP00000502510.1:p.Asp123=
ENST00000675417.1:n.603C>T
ENST00000675538.1:c.405C>T	ENSP00000502495.1:p.Ser135=
ENST00000675906.1:c.370C>T	ENSP00000502714.1:p.His124Tyr
ENST00000676195.1:n.86C>T
ENST00000676231.1:c.400C>T	ENSP00000502249.1:p.His134Tyr
ENST00000248553.6:c.370C>T	ENSP00000248553.6:p.His124Tyr
ENST00000429938.1:c.-135C>T	ENSP00000405285.1:n.-135C>T
ENST00000447574.1:c.*534C>T	ENSP00000414357.1:n.*534C>T
NM_001540.3:c.370C>T , LRG_248t1:c.370C>T	NP_001531.1:p.His124Tyr
NM_001540.4:c.370C>T	NP_001531.1:p.His124Tyr
NM_001540.5:c.370C>T MANE Select	NP_001531.1:p.His124Tyr