Canonical Allele Identifier: CA348720

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 220419
• ClinVar RCV Id: RCV000204495 ; RCV000789334 ; RCV000992169 ; RCV002426966 ; RCV003993892
• dbSNP Id: rs770272088
• gnomAD v2: 7-75932279-G-C
• gnomAD v3: 7-76302962-G-C
• gnomAD v4: 7-76302962-G-C
• MyVariant Identifiers: chr7:g.75932279G>C (hg19) ; chr7:g.76302962G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76302962G>C , CM000669.2:g.76302962G>C	GRCh38
NC_000007.13:g.75932279G>C , CM000669.1:g.75932279G>C	GRCh37
NC_000007.12:g.75770215G>C	NCBI36
NG_008995.1:g.5405G>C , LRG_248:g.5405G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.250G>C MANE Select	ENSP00000248553.6:p.Gly84Arg
ENST00000674547.1:c.250G>C	ENSP00000502461.1:p.Gly84Arg
ENST00000674560.1:n.290G>C
ENST00000674638.1:c.250G>C	ENSP00000502651.1:p.Gly84Arg
ENST00000674650.1:c.250G>C	ENSP00000501628.1:p.Gly84Arg
ENST00000674965.1:c.250G>C	ENSP00000501765.1:p.Gly84Arg
ENST00000675134.1:c.250G>C	ENSP00000501831.1:p.Gly84Arg
ENST00000675226.1:c.250G>C	ENSP00000502510.1:p.Gly84Arg
ENST00000675488.1:n.290G>C
ENST00000675538.1:c.250G>C	ENSP00000502495.1:p.Gly84Arg
ENST00000675624.1:n.290G>C
ENST00000675733.1:n.290G>C
ENST00000675906.1:c.250G>C	ENSP00000502714.1:p.Gly84Arg
ENST00000676231.1:c.250G>C	ENSP00000502249.1:p.Gly84Arg
ENST00000676398.1:n.290G>C
ENST00000248553.6:c.250G>C	ENSP00000248553.6:p.Gly84Arg
ENST00000447574.1:c.250G>C	ENSP00000414357.1:p.Gly84Arg
NM_001540.3:c.250G>C , LRG_248t1:c.250G>C	NP_001531.1:p.Gly84Arg
NM_001540.4:c.250G>C	NP_001531.1:p.Gly84Arg
NM_001540.5:c.250G>C MANE Select	NP_001531.1:p.Gly84Arg