Canonical Allele Identifier: CA575786718

Gene: HSPB1

Linked Data

• dbSNP Id: rs1221929681
• gnomAD v2: 7-75933065-G-A
• gnomAD v3: 7-76303748-G-A
• gnomAD v4: 7-76303748-G-A
• MyVariant Identifiers: chr7:g.75933065G>A (hg19) ; chr7:g.76303748G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303748G>A , CM000669.2:g.76303748G>A	GRCh38
NC_000007.13:g.75933065G>A , CM000669.1:g.75933065G>A	GRCh37
NC_000007.12:g.75771001G>A	NCBI36
NG_008995.1:g.6191G>A , LRG_248:g.6191G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.365-54G>A MANE Select	ENSP00000248553.6:n.365-54G>A
ENST00000674547.1:c.365-54G>A	ENSP00000502461.1:n.365-54G>A
ENST00000674638.1:c.365-59G>A	ENSP00000502651.1:n.365-59G>A
ENST00000674650.1:c.365-236G>A	ENSP00000501628.1:n.365-236G>A
ENST00000674965.1:c.365-29G>A	ENSP00000501765.1:n.365-29G>A
ENST00000675134.1:c.365-54G>A	ENSP00000501831.1:n.365-54G>A
ENST00000675226.1:c.369-59G>A	ENSP00000502510.1:n.369-59G>A
ENST00000675417.1:n.544G>A
ENST00000675538.1:c.400-54G>A	ENSP00000502495.1:n.400-54G>A
ENST00000675733.1:n.405-14G>A
ENST00000675906.1:c.365-54G>A	ENSP00000502714.1:n.365-54G>A
ENST00000676195.1:n.81-54G>A
ENST00000676231.1:c.394+21G>A	ENSP00000502249.1:n.394+21G>A
ENST00000248553.6:c.365-54G>A	ENSP00000248553.6:n.365-54G>A
ENST00000429938.1:c.-141+21G>A	ENSP00000405285.1:n.-141+21G>A
ENST00000447574.1:c.*475G>A	ENSP00000414357.1:n.*475G>A
NM_001540.3:c.365-54G>A , LRG_248t1:c.365-54G>A	NP_001531.1:n.365-54G>A
NM_001540.4:c.365-54G>A	NP_001531.1:n.365-54G>A
NM_001540.5:c.365-54G>A MANE Select	NP_001531.1:n.365-54G>A