Canonical Allele Identifier: CA367765424

Gene: HSPB1

Linked Data

• dbSNP Id: rs776122496
• gnomAD v2: 7-75933149-G-C
• gnomAD v4: 7-76303832-G-C
• MyVariant Identifiers: chr7:g.75933149G>C (hg19) ; chr7:g.76303832G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303832G>C , CM000669.2:g.76303832G>C	GRCh38
NC_000007.13:g.75933149G>C , CM000669.1:g.75933149G>C	GRCh37
NC_000007.12:g.75771085G>C	NCBI36
NG_008995.1:g.6275G>C , LRG_248:g.6275G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.395G>C MANE Select	ENSP00000248553.6:p.Gly132Ala
ENST00000674547.1:c.395G>C	ENSP00000502461.1:p.Gly132Ala
ENST00000674638.1:c.390G>C	ENSP00000502651.1:p.Trp130Cys
ENST00000674650.1:c.365-152G>C	ENSP00000501628.1:n.365-152G>C
ENST00000674965.1:c.*51G>C	ENSP00000501765.1:n.*51G>C
ENST00000675134.1:c.395G>C	ENSP00000501831.1:p.Gly132Ala
ENST00000675226.1:c.394G>C	ENSP00000502510.1:p.Ala132Pro
ENST00000675417.1:n.628G>C
ENST00000675538.1:c.430G>C	ENSP00000502495.1:p.Ala144Pro
ENST00000675906.1:c.395G>C	ENSP00000502714.1:p.Gly132Ala
ENST00000676195.1:n.111G>C
ENST00000676231.1:c.425G>C	ENSP00000502249.1:p.Gly142Ala
ENST00000248553.6:c.395G>C	ENSP00000248553.6:p.Gly132Ala
ENST00000429938.1:c.-110G>C	ENSP00000405285.1:n.-110G>C
ENST00000447574.1:c.*559G>C	ENSP00000414357.1:n.*559G>C
NM_001540.3:c.395G>C , LRG_248t1:c.395G>C	NP_001531.1:p.Gly132Ala
NM_001540.4:c.395G>C	NP_001531.1:p.Gly132Ala
NM_001540.5:c.395G>C MANE Select	NP_001531.1:p.Gly132Ala