Canonical Allele Identifier: CA4306349

Gene: HSPB1

Linked Data

• dbSNP Id: rs759159152
• ExAC: 7:75933105 T / C
• gnomAD v2: 7-75933105-T-C
• gnomAD v4: 7-76303788-T-C
• MyVariant Identifiers: chr7:g.75933105T>C (hg19) ; chr7:g.76303788T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303788T>C , CM000669.2:g.76303788T>C	GRCh38
NC_000007.13:g.75933105T>C , CM000669.1:g.75933105T>C	GRCh37
NC_000007.12:g.75771041T>C	NCBI36
NG_008995.1:g.6231T>C , LRG_248:g.6231T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-14T>C MANE Select	ENSP00000248553.6:n.365-14T>C
ENST00000674547.1:c.365-14T>C	ENSP00000502461.1:n.365-14T>C
ENST00000674638.1:c.365-19T>C	ENSP00000502651.1:n.365-19T>C
ENST00000674650.1:c.365-196T>C	ENSP00000501628.1:n.365-196T>C
ENST00000674965.1:c.*7T>C	ENSP00000501765.1:n.*7T>C
ENST00000675134.1:c.365-14T>C	ENSP00000501831.1:n.365-14T>C
ENST00000675226.1:c.369-19T>C	ENSP00000502510.1:n.369-19T>C
ENST00000675417.1:n.584T>C
ENST00000675538.1:c.400-14T>C	ENSP00000502495.1:n.400-14T>C
ENST00000675733.1:n.431T>C
ENST00000675906.1:c.365-14T>C	ENSP00000502714.1:n.365-14T>C
ENST00000676195.1:n.81-14T>C
ENST00000676231.1:c.395-14T>C	ENSP00000502249.1:n.395-14T>C
ENST00000248553.6:c.365-14T>C	ENSP00000248553.6:n.365-14T>C
ENST00000429938.1:c.-140-14T>C	ENSP00000405285.1:n.-140-14T>C
ENST00000447574.1:c.*515T>C	ENSP00000414357.1:n.*515T>C
NM_001540.3:c.365-14T>C , LRG_248t1:c.365-14T>C	NP_001531.1:n.365-14T>C
NM_001540.4:c.365-14T>C	NP_001531.1:n.365-14T>C
NM_001540.5:c.365-14T>C MANE Select	NP_001531.1:n.365-14T>C