Canonical Allele Identifier: CA2683408087

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76303722-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303722C>T , CM000669.2:g.76303722C>T	GRCh38
NC_000007.13:g.75933039C>T , CM000669.1:g.75933039C>T	GRCh37
NC_000007.12:g.75770975C>T	NCBI36
NG_008995.1:g.6165C>T , LRG_248:g.6165C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-80C>T MANE Select	ENSP00000248553.6:n.365-80C>T
ENST00000674547.1:c.365-80C>T	ENSP00000502461.1:n.365-80C>T
ENST00000674638.1:c.365-85C>T	ENSP00000502651.1:n.365-85C>T
ENST00000674650.1:c.365-262C>T	ENSP00000501628.1:n.365-262C>T
ENST00000674965.1:c.365-55C>T	ENSP00000501765.1:n.365-55C>T
ENST00000675134.1:c.365-80C>T	ENSP00000501831.1:n.365-80C>T
ENST00000675226.1:c.369-85C>T	ENSP00000502510.1:n.369-85C>T
ENST00000675417.1:n.518C>T
ENST00000675538.1:c.400-80C>T	ENSP00000502495.1:n.400-80C>T
ENST00000675733.1:n.405-40C>T
ENST00000675906.1:c.365-80C>T	ENSP00000502714.1:n.365-80C>T
ENST00000676195.1:n.80+66C>T
ENST00000676231.1:c.389C>T	ENSP00000502249.1:p.Ala130Val
ENST00000248553.6:c.365-80C>T	ENSP00000248553.6:n.365-80C>T
ENST00000429938.1:c.-146C>T	ENSP00000405285.1:n.-146C>T
ENST00000447574.1:c.*449C>T	ENSP00000414357.1:n.*449C>T
NM_001540.3:c.365-80C>T , LRG_248t1:c.365-80C>T	NP_001531.1:n.365-80C>T
NM_001540.4:c.365-80C>T	NP_001531.1:n.365-80C>T
NM_001540.5:c.365-80C>T MANE Select	NP_001531.1:n.365-80C>T