Canonical Allele Identifier: CA2683408178

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76303753-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303753G>C , CM000669.2:g.76303753G>C	GRCh38
NC_000007.13:g.75933070G>C , CM000669.1:g.75933070G>C	GRCh37
NC_000007.12:g.75771006G>C	NCBI36
NG_008995.1:g.6196G>C , LRG_248:g.6196G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-49G>C MANE Select	ENSP00000248553.6:n.365-49G>C
ENST00000674547.1:c.365-49G>C	ENSP00000502461.1:n.365-49G>C
ENST00000674638.1:c.365-54G>C	ENSP00000502651.1:n.365-54G>C
ENST00000674650.1:c.365-231G>C	ENSP00000501628.1:n.365-231G>C
ENST00000674965.1:c.365-24G>C	ENSP00000501765.1:n.365-24G>C
ENST00000675134.1:c.365-49G>C	ENSP00000501831.1:n.365-49G>C
ENST00000675226.1:c.369-54G>C	ENSP00000502510.1:n.369-54G>C
ENST00000675417.1:n.549G>C
ENST00000675538.1:c.400-49G>C	ENSP00000502495.1:n.400-49G>C
ENST00000675733.1:n.405-9G>C
ENST00000675906.1:c.365-49G>C	ENSP00000502714.1:n.365-49G>C
ENST00000676195.1:n.81-49G>C
ENST00000676231.1:c.394+26G>C	ENSP00000502249.1:n.394+26G>C
ENST00000248553.6:c.365-49G>C	ENSP00000248553.6:n.365-49G>C
ENST00000429938.1:c.-141+26G>C	ENSP00000405285.1:n.-141+26G>C
ENST00000447574.1:c.*480G>C	ENSP00000414357.1:n.*480G>C
NM_001540.3:c.365-49G>C , LRG_248t1:c.365-49G>C	NP_001531.1:n.365-49G>C
NM_001540.4:c.365-49G>C	NP_001531.1:n.365-49G>C
NM_001540.5:c.365-49G>C MANE Select	NP_001531.1:n.365-49G>C