Canonical Allele Identifier: CA575786726
Community Standard Title: NM_001540.5(HSPB1):c.365-5C>A
Gene: HSPB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76303797C>A , CM000669.2:g.76303797C>A GRCh38
NC_000007.13:g.75933114C>A , CM000669.1:g.75933114C>A GRCh37
NC_000007.12:g.75771050C>A NCBI36
NG_008995.1:g.6240C>A , LRG_248:g.6240C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001540.5:c.365-5C>A MANE Select NP_001531.1:n.365-5C>A
ENST00000248553.7:c.365-5C>A MANE Select ENSP00000248553.6:n.365-5C>A
NM_001540.3:c.365-5C>A , LRG_248t1:c.365-5C>A NP_001531.1:n.365-5C>A
NM_001540.4:c.365-5C>A NP_001531.1:n.365-5C>A
ENST00000248553.6:c.365-5C>A ENSP00000248553.6:n.365-5C>A
ENST00000429938.1:c.-140-5C>A ENSP00000405285.1:n.-140-5C>A
ENST00000447574.1:c.*524C>A ENSP00000414357.1:n.*524C>A
ENST00000674547.1:c.365-5C>A ENSP00000502461.1:n.365-5C>A
ENST00000674638.1:c.365-10C>A ENSP00000502651.1:n.365-10C>A
ENST00000674650.1:c.365-187C>A ENSP00000501628.1:n.365-187C>A
ENST00000674965.1:c.*16C>A ENSP00000501765.1:n.*16C>A
ENST00000675134.1:c.365-5C>A ENSP00000501831.1:n.365-5C>A
ENST00000675226.1:c.369-10C>A ENSP00000502510.1:n.369-10C>A
ENST00000675417.1:n.593C>A
ENST00000675538.1:c.400-5C>A ENSP00000502495.1:n.400-5C>A
ENST00000675906.1:c.365-5C>A ENSP00000502714.1:n.365-5C>A
ENST00000676195.1:n.81-5C>A
ENST00000676231.1:c.395-5C>A ENSP00000502249.1:n.395-5C>A