Canonical Allele Identifier: CA160900964
Community Standard Title: NM_001540.5(HSPB1):c.365-60C>T
Gene: HSPB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76303742C>T , CM000669.2:g.76303742C>T GRCh38
NC_000007.13:g.75933059C>T , CM000669.1:g.75933059C>T GRCh37
NC_000007.12:g.75770995C>T NCBI36
NG_008995.1:g.6185C>T , LRG_248:g.6185C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001540.5:c.365-60C>T MANE Select NP_001531.1:n.365-60C>T
ENST00000248553.7:c.365-60C>T MANE Select ENSP00000248553.6:n.365-60C>T
NM_001540.3:c.365-60C>T , LRG_248t1:c.365-60C>T NP_001531.1:n.365-60C>T
NM_001540.4:c.365-60C>T NP_001531.1:n.365-60C>T
ENST00000248553.6:c.365-60C>T ENSP00000248553.6:n.365-60C>T
ENST00000429938.1:c.-141+15C>T ENSP00000405285.1:n.-141+15C>T
ENST00000447574.1:c.*469C>T ENSP00000414357.1:n.*469C>T
ENST00000674547.1:c.365-60C>T ENSP00000502461.1:n.365-60C>T
ENST00000674638.1:c.365-65C>T ENSP00000502651.1:n.365-65C>T
ENST00000674650.1:c.365-242C>T ENSP00000501628.1:n.365-242C>T
ENST00000674965.1:c.365-35C>T ENSP00000501765.1:n.365-35C>T
ENST00000675134.1:c.365-60C>T ENSP00000501831.1:n.365-60C>T
ENST00000675226.1:c.369-65C>T ENSP00000502510.1:n.369-65C>T
ENST00000675417.1:n.538C>T
ENST00000675538.1:c.400-60C>T ENSP00000502495.1:n.400-60C>T
ENST00000675733.1:n.405-20C>T
ENST00000675906.1:c.365-60C>T ENSP00000502714.1:n.365-60C>T
ENST00000676195.1:n.81-60C>T
ENST00000676231.1:c.394+15C>T ENSP00000502249.1:n.394+15C>T