Canonical Allele Identifier: CA456330615
Gene: HSPB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.75933421C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76304104C>G , CM000669.2:g.76304104C>G GRCh38
NC_000007.13:g.75933421C>G , CM000669.1:g.75933421C>G GRCh37
NC_000007.12:g.75771357C>G NCBI36
NG_008995.1:g.6547C>G , LRG_248:g.6547C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248553.7:c.549C>G MANE Select ENSP00000248553.6:p.Val183=
ENST00000674547.1:c.*140C>G ENSP00000502461.1:n.*140C>G
ENST00000674638.1:c.*70C>G ENSP00000502651.1:n.*70C>G
ENST00000674650.1:c.*59C>G ENSP00000501628.1:n.*59C>G
ENST00000674965.1:c.*205C>G ENSP00000501765.1:n.*205C>G
ENST00000675134.1:c.528C>G ENSP00000501831.1:p.Val176=
ENST00000675226.1:c.*59C>G ENSP00000502510.1:n.*59C>G
ENST00000675417.1:n.900C>G
ENST00000675538.1:c.*59C>G ENSP00000502495.1:n.*59C>G
ENST00000675906.1:c.*134C>G ENSP00000502714.1:n.*134C>G
ENST00000676231.1:c.579C>G ENSP00000502249.1:p.Val193=
ENST00000248553.6:c.549C>G ENSP00000248553.6:p.Val183=
ENST00000429938.1:c.45C>G ENSP00000405285.1:p.Val15=
ENST00000447574.1:c.*713C>G ENSP00000414357.1:n.*713C>G
NM_001540.3:c.549C>G , LRG_248t1:c.549C>G NP_001531.1:p.Val183=
NM_001540.4:c.549C>G NP_001531.1:p.Val183=
NM_001540.5:c.549C>G MANE Select NP_001531.1:p.Val183=