Canonical Allele Identifier: CA4306441

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 465277
• ClinVar RCV Id: RCV000549905
• dbSNP Id: rs777225392
• ExAC: 7:75933426 T / C
• gnomAD v2: 7-75933426-T-C
• gnomAD v4: 7-76304109-T-C
• MyVariant Identifiers: chr7:g.75933426T>C (hg19) ; chr7:g.76304109T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304109T>C , CM000669.2:g.76304109T>C	GRCh38
NC_000007.13:g.75933426T>C , CM000669.1:g.75933426T>C	GRCh37
NC_000007.12:g.75771362T>C	NCBI36
NG_008995.1:g.6552T>C , LRG_248:g.6552T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.554T>C MANE Select	ENSP00000248553.6:p.Phe185Ser
ENST00000674547.1:c.*145T>C	ENSP00000502461.1:n.*145T>C
ENST00000674638.1:c.*75T>C	ENSP00000502651.1:n.*75T>C
ENST00000674650.1:c.*64T>C	ENSP00000501628.1:n.*64T>C
ENST00000674965.1:c.*210T>C	ENSP00000501765.1:n.*210T>C
ENST00000675134.1:c.533T>C	ENSP00000501831.1:p.Phe178Ser
ENST00000675226.1:c.*64T>C	ENSP00000502510.1:n.*64T>C
ENST00000675417.1:n.905T>C
ENST00000675538.1:c.*64T>C	ENSP00000502495.1:n.*64T>C
ENST00000675906.1:c.*139T>C	ENSP00000502714.1:n.*139T>C
ENST00000676231.1:c.584T>C	ENSP00000502249.1:p.Phe195Ser
ENST00000248553.6:c.554T>C	ENSP00000248553.6:p.Phe185Ser
ENST00000429938.1:c.50T>C	ENSP00000405285.1:p.Phe17Ser
ENST00000447574.1:c.*718T>C	ENSP00000414357.1:n.*718T>C
NM_001540.3:c.554T>C , LRG_248t1:c.554T>C	NP_001531.1:p.Phe185Ser
NM_001540.4:c.554T>C	NP_001531.1:p.Phe185Ser
NM_001540.5:c.554T>C MANE Select	NP_001531.1:p.Phe185Ser