Canonical Allele Identifier: CA367765296

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76303810-G-C
• MyVariant Identifiers: chr7:g.75933127G>C (hg19) ; chr7:g.76303810G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303810G>C , CM000669.2:g.76303810G>C	GRCh38
NC_000007.13:g.75933127G>C , CM000669.1:g.75933127G>C	GRCh37
NC_000007.12:g.75771063G>C	NCBI36
NG_008995.1:g.6253G>C , LRG_248:g.6253G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.373G>C MANE Select	ENSP00000248553.6:p.Glu125Gln
ENST00000674547.1:c.373G>C	ENSP00000502461.1:p.Glu125Gln
ENST00000674638.1:c.368G>C	ENSP00000502651.1:p.Arg123Pro
ENST00000674650.1:c.365-174G>C	ENSP00000501628.1:n.365-174G>C
ENST00000674965.1:c.*29G>C	ENSP00000501765.1:n.*29G>C
ENST00000675134.1:c.373G>C	ENSP00000501831.1:p.Glu125Gln
ENST00000675226.1:c.372G>C	ENSP00000502510.1:p.Thr124=
ENST00000675417.1:n.606G>C
ENST00000675538.1:c.408G>C	ENSP00000502495.1:p.Thr136=
ENST00000675906.1:c.373G>C	ENSP00000502714.1:p.Glu125Gln
ENST00000676195.1:n.89G>C
ENST00000676231.1:c.403G>C	ENSP00000502249.1:p.Glu135Gln
ENST00000248553.6:c.373G>C	ENSP00000248553.6:p.Glu125Gln
ENST00000429938.1:c.-132G>C	ENSP00000405285.1:n.-132G>C
ENST00000447574.1:c.*537G>C	ENSP00000414357.1:n.*537G>C
NM_001540.3:c.373G>C , LRG_248t1:c.373G>C	NP_001531.1:p.Glu125Gln
NM_001540.4:c.373G>C	NP_001531.1:p.Glu125Gln
NM_001540.5:c.373G>C MANE Select	NP_001531.1:p.Glu125Gln