Canonical Allele Identifier: CA2683408716

Gene: HSPB1

Linked Data

• dbSNP Id: rs2117161380
• gnomAD v4: 7-76303872-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303872C>T , CM000669.2:g.76303872C>T	GRCh38
NC_000007.13:g.75933189C>T , CM000669.1:g.75933189C>T	GRCh37
NC_000007.12:g.75771125C>T	NCBI36
NG_008995.1:g.6315C>T , LRG_248:g.6315C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.428+7C>T MANE Select	ENSP00000248553.6:n.428+7C>T
ENST00000674547.1:c.*3C>T	ENSP00000502461.1:n.*3C>T
ENST00000674638.1:c.423+7C>T	ENSP00000502651.1:n.423+7C>T
ENST00000674650.1:c.365-112C>T	ENSP00000501628.1:n.365-112C>T
ENST00000674965.1:c.*84+7C>T	ENSP00000501765.1:n.*84+7C>T
ENST00000675134.1:c.407+28C>T	ENSP00000501831.1:n.407+28C>T
ENST00000675226.1:c.427+7C>T	ENSP00000502510.1:n.427+7C>T
ENST00000675417.1:n.668C>T
ENST00000675538.1:c.463+7C>T	ENSP00000502495.1:n.463+7C>T
ENST00000675906.1:c.*3C>T	ENSP00000502714.1:n.*3C>T
ENST00000676231.1:c.458+7C>T	ENSP00000502249.1:n.458+7C>T
ENST00000248553.6:c.428+7C>T	ENSP00000248553.6:n.428+7C>T
ENST00000429938.1:c.-77+7C>T	ENSP00000405285.1:n.-77+7C>T
ENST00000447574.1:c.*592+7C>T	ENSP00000414357.1:n.*592+7C>T
NM_001540.3:c.428+7C>T , LRG_248t1:c.428+7C>T	NP_001531.1:n.428+7C>T
NM_001540.4:c.428+7C>T	NP_001531.1:n.428+7C>T
NM_001540.5:c.428+7C>T MANE Select	NP_001531.1:n.428+7C>T