Canonical Allele Identifier: CA2683408170

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76303750-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303750G>T , CM000669.2:g.76303750G>T	GRCh38
NC_000007.13:g.75933067G>T , CM000669.1:g.75933067G>T	GRCh37
NC_000007.12:g.75771003G>T	NCBI36
NG_008995.1:g.6193G>T , LRG_248:g.6193G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-52G>T MANE Select	ENSP00000248553.6:n.365-52G>T
ENST00000674547.1:c.365-52G>T	ENSP00000502461.1:n.365-52G>T
ENST00000674638.1:c.365-57G>T	ENSP00000502651.1:n.365-57G>T
ENST00000674650.1:c.365-234G>T	ENSP00000501628.1:n.365-234G>T
ENST00000674965.1:c.365-27G>T	ENSP00000501765.1:n.365-27G>T
ENST00000675134.1:c.365-52G>T	ENSP00000501831.1:n.365-52G>T
ENST00000675226.1:c.369-57G>T	ENSP00000502510.1:n.369-57G>T
ENST00000675417.1:n.546G>T
ENST00000675538.1:c.400-52G>T	ENSP00000502495.1:n.400-52G>T
ENST00000675733.1:n.405-12G>T
ENST00000675906.1:c.365-52G>T	ENSP00000502714.1:n.365-52G>T
ENST00000676195.1:n.81-52G>T
ENST00000676231.1:c.394+23G>T	ENSP00000502249.1:n.394+23G>T
ENST00000248553.6:c.365-52G>T	ENSP00000248553.6:n.365-52G>T
ENST00000429938.1:c.-141+23G>T	ENSP00000405285.1:n.-141+23G>T
ENST00000447574.1:c.*477G>T	ENSP00000414357.1:n.*477G>T
NM_001540.3:c.365-52G>T , LRG_248t1:c.365-52G>T	NP_001531.1:n.365-52G>T
NM_001540.4:c.365-52G>T	NP_001531.1:n.365-52G>T
NM_001540.5:c.365-52G>T MANE Select	NP_001531.1:n.365-52G>T