Canonical Allele Identifier: CA575786752
Community Standard Title: NM_001540.5(HSPB1):c.364+6C>T
Gene: HSPB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76303082C>T , CM000669.2:g.76303082C>T GRCh38
NC_000007.13:g.75932399C>T , CM000669.1:g.75932399C>T GRCh37
NC_000007.12:g.75770335C>T NCBI36
NG_008995.1:g.5525C>T , LRG_248:g.5525C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001540.5:c.364+6C>T MANE Select NP_001531.1:n.364+6C>T
ENST00000248553.7:c.364+6C>T MANE Select ENSP00000248553.6:n.364+6C>T
NM_001540.3:c.364+6C>T , LRG_248t1:c.364+6C>T NP_001531.1:n.364+6C>T
NM_001540.4:c.364+6C>T NP_001531.1:n.364+6C>T
ENST00000248553.6:c.364+6C>T ENSP00000248553.6:n.364+6C>T
ENST00000447574.1:c.370C>T ENSP00000414357.1:p.Pro124Ser
ENST00000674547.1:c.364+6C>T ENSP00000502461.1:n.364+6C>T
ENST00000674560.1:n.404+6C>T
ENST00000674638.1:c.364+6C>T ENSP00000502651.1:n.364+6C>T
ENST00000674650.1:c.364+6C>T ENSP00000501628.1:n.364+6C>T
ENST00000674965.1:c.364+6C>T ENSP00000501765.1:n.364+6C>T
ENST00000675134.1:c.364+6C>T ENSP00000501831.1:n.364+6C>T
ENST00000675226.1:c.368+2C>T ENSP00000502510.1:n.368+2C>T
ENST00000675488.1:n.404+6C>T
ENST00000675538.1:c.370C>T ENSP00000502495.1:p.Pro124Ser
ENST00000675624.1:n.404+6C>T
ENST00000675733.1:n.404+6C>T
ENST00000675906.1:c.364+6C>T ENSP00000502714.1:n.364+6C>T
ENST00000676231.1:c.364+6C>T ENSP00000502249.1:n.364+6C>T
ENST00000676398.1:n.404+6C>T