Canonical Allele Identifier: CA842327677

Gene: HSPB1

Linked Data

• dbSNP Id: rs1272337953
• gnomAD v4: 7-76303911-G-C
• MyVariant Identifiers: chr7:g.75933228G>C (hg19) ; chr7:g.76303911G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303911G>C , CM000669.2:g.76303911G>C	GRCh38
NC_000007.13:g.75933228G>C , CM000669.1:g.75933228G>C	GRCh37
NC_000007.12:g.75771164G>C	NCBI36
NG_008995.1:g.6354G>C , LRG_248:g.6354G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.428+46G>C MANE Select	ENSP00000248553.6:n.428+46G>C
ENST00000674547.1:c.*19+23G>C	ENSP00000502461.1:n.*19+23G>C
ENST00000674638.1:c.423+46G>C	ENSP00000502651.1:n.423+46G>C
ENST00000674650.1:c.365-73G>C	ENSP00000501628.1:n.365-73G>C
ENST00000674965.1:c.*84+46G>C	ENSP00000501765.1:n.*84+46G>C
ENST00000675134.1:c.407+67G>C	ENSP00000501831.1:n.407+67G>C
ENST00000675226.1:c.427+46G>C	ENSP00000502510.1:n.427+46G>C
ENST00000675417.1:n.707G>C
ENST00000675538.1:c.463+46G>C	ENSP00000502495.1:n.463+46G>C
ENST00000675906.1:c.*13+29G>C	ENSP00000502714.1:n.*13+29G>C
ENST00000676231.1:c.458+46G>C	ENSP00000502249.1:n.458+46G>C
ENST00000248553.6:c.428+46G>C	ENSP00000248553.6:n.428+46G>C
ENST00000429938.1:c.-77+46G>C	ENSP00000405285.1:n.-77+46G>C
ENST00000447574.1:c.*592+46G>C	ENSP00000414357.1:n.*592+46G>C
NM_001540.3:c.428+46G>C , LRG_248t1:c.428+46G>C	NP_001531.1:n.428+46G>C
NM_001540.4:c.428+46G>C	NP_001531.1:n.428+46G>C
NM_001540.5:c.428+46G>C MANE Select	NP_001531.1:n.428+46G>C