Canonical Allele Identifier: CA2683408972

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76303917-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303917G>A , CM000669.2:g.76303917G>A	GRCh38
NC_000007.13:g.75933234G>A , CM000669.1:g.75933234G>A	GRCh37
NC_000007.12:g.75771170G>A	NCBI36
NG_008995.1:g.6360G>A , LRG_248:g.6360G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.428+52G>A MANE Select	ENSP00000248553.6:n.428+52G>A
ENST00000674547.1:c.*19+29G>A	ENSP00000502461.1:n.*19+29G>A
ENST00000674638.1:c.423+52G>A	ENSP00000502651.1:n.423+52G>A
ENST00000674650.1:c.365-67G>A	ENSP00000501628.1:n.365-67G>A
ENST00000674965.1:c.*84+52G>A	ENSP00000501765.1:n.*84+52G>A
ENST00000675134.1:c.408-67G>A	ENSP00000501831.1:n.408-67G>A
ENST00000675226.1:c.427+52G>A	ENSP00000502510.1:n.427+52G>A
ENST00000675417.1:n.713G>A
ENST00000675538.1:c.463+52G>A	ENSP00000502495.1:n.463+52G>A
ENST00000675906.1:c.*13+35G>A	ENSP00000502714.1:n.*13+35G>A
ENST00000676231.1:c.458+52G>A	ENSP00000502249.1:n.458+52G>A
ENST00000248553.6:c.428+52G>A	ENSP00000248553.6:n.428+52G>A
ENST00000429938.1:c.-77+52G>A	ENSP00000405285.1:n.-77+52G>A
ENST00000447574.1:c.*592+52G>A	ENSP00000414357.1:n.*592+52G>A
NM_001540.3:c.428+52G>A , LRG_248t1:c.428+52G>A	NP_001531.1:n.428+52G>A
NM_001540.4:c.428+52G>A	NP_001531.1:n.428+52G>A
NM_001540.5:c.428+52G>A MANE Select	NP_001531.1:n.428+52G>A