Canonical Allele Identifier: CA2683408082

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76303721-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303721G>A , CM000669.2:g.76303721G>A	GRCh38
NC_000007.13:g.75933038G>A , CM000669.1:g.75933038G>A	GRCh37
NC_000007.12:g.75770974G>A	NCBI36
NG_008995.1:g.6164G>A , LRG_248:g.6164G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-81G>A MANE Select	ENSP00000248553.6:n.365-81G>A
ENST00000674547.1:c.365-81G>A	ENSP00000502461.1:n.365-81G>A
ENST00000674638.1:c.365-86G>A	ENSP00000502651.1:n.365-86G>A
ENST00000674650.1:c.365-263G>A	ENSP00000501628.1:n.365-263G>A
ENST00000674965.1:c.365-56G>A	ENSP00000501765.1:n.365-56G>A
ENST00000675134.1:c.365-81G>A	ENSP00000501831.1:n.365-81G>A
ENST00000675226.1:c.369-86G>A	ENSP00000502510.1:n.369-86G>A
ENST00000675417.1:n.517G>A
ENST00000675538.1:c.400-81G>A	ENSP00000502495.1:n.400-81G>A
ENST00000675733.1:n.405-41G>A
ENST00000675906.1:c.365-81G>A	ENSP00000502714.1:n.365-81G>A
ENST00000676195.1:n.80+65G>A
ENST00000676231.1:c.388G>A	ENSP00000502249.1:p.Ala130Thr
ENST00000248553.6:c.365-81G>A	ENSP00000248553.6:n.365-81G>A
ENST00000429938.1:c.-147G>A	ENSP00000405285.1:n.-147G>A
ENST00000447574.1:c.*448G>A	ENSP00000414357.1:n.*448G>A
NM_001540.3:c.365-81G>A , LRG_248t1:c.365-81G>A	NP_001531.1:n.365-81G>A
NM_001540.4:c.365-81G>A	NP_001531.1:n.365-81G>A
NM_001540.5:c.365-81G>A MANE Select	NP_001531.1:n.365-81G>A