Canonical Allele Identifier: CA1718331147

Gene: HSPB1

Linked Data

• dbSNP Id: rs1803064476
• gnomAD v4: 7-76303920-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303920A>C , CM000669.2:g.76303920A>C	GRCh38
NC_000007.13:g.75933237A>C , CM000669.1:g.75933237A>C	GRCh37
NC_000007.12:g.75771173A>C	NCBI36
NG_008995.1:g.6363A>C , LRG_248:g.6363A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.428+55A>C MANE Select	ENSP00000248553.6:n.428+55A>C
ENST00000674547.1:c.*19+32A>C	ENSP00000502461.1:n.*19+32A>C
ENST00000674638.1:c.423+55A>C	ENSP00000502651.1:n.423+55A>C
ENST00000674650.1:c.365-64A>C	ENSP00000501628.1:n.365-64A>C
ENST00000674965.1:c.*84+55A>C	ENSP00000501765.1:n.*84+55A>C
ENST00000675134.1:c.408-64A>C	ENSP00000501831.1:n.408-64A>C
ENST00000675226.1:c.427+55A>C	ENSP00000502510.1:n.427+55A>C
ENST00000675417.1:n.716A>C
ENST00000675538.1:c.463+55A>C	ENSP00000502495.1:n.463+55A>C
ENST00000675906.1:c.*13+38A>C	ENSP00000502714.1:n.*13+38A>C
ENST00000676231.1:c.458+55A>C	ENSP00000502249.1:n.458+55A>C
ENST00000248553.6:c.428+55A>C	ENSP00000248553.6:n.428+55A>C
ENST00000429938.1:c.-77+55A>C	ENSP00000405285.1:n.-77+55A>C
ENST00000447574.1:c.*592+55A>C	ENSP00000414357.1:n.*592+55A>C
NM_001540.3:c.428+55A>C , LRG_248t1:c.428+55A>C	NP_001531.1:n.428+55A>C
NM_001540.4:c.428+55A>C	NP_001531.1:n.428+55A>C
NM_001540.5:c.428+55A>C MANE Select	NP_001531.1:n.428+55A>C