Canonical Allele Identifier: CA4306393

Gene: HSPB1

Linked Data

• dbSNP Id: rs775280547
• ExAC: 7:75933203 G / A
• gnomAD v2: 7-75933203-G-A
• gnomAD v4: 7-76303886-G-A
• MyVariant Identifiers: chr7:g.75933203G>A (hg19) ; chr7:g.75933203_75933207delinsAGGGT (hg19) ; chr7:g.76303886G>A (hg38) ; chr7:g.76303886_76303890delinsAGGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303886G>A , CM000669.2:g.76303886G>A	GRCh38
NC_000007.13:g.75933203G>A , CM000669.1:g.75933203G>A	GRCh37
NC_000007.12:g.75771139G>A	NCBI36
NG_008995.1:g.6329G>A , LRG_248:g.6329G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.428+21G>A MANE Select	ENSP00000248553.6:n.428+21G>A
ENST00000674547.1:c.*17G>A	ENSP00000502461.1:n.*17G>A
ENST00000674638.1:c.423+21G>A	ENSP00000502651.1:n.423+21G>A
ENST00000674650.1:c.365-98G>A	ENSP00000501628.1:n.365-98G>A
ENST00000674965.1:c.*84+21G>A	ENSP00000501765.1:n.*84+21G>A
ENST00000675134.1:c.407+42G>A	ENSP00000501831.1:n.407+42G>A
ENST00000675226.1:c.427+21G>A	ENSP00000502510.1:n.427+21G>A
ENST00000675417.1:n.682G>A
ENST00000675538.1:c.463+21G>A	ENSP00000502495.1:n.463+21G>A
ENST00000675906.1:c.*13+4G>A	ENSP00000502714.1:n.*13+4G>A
ENST00000676231.1:c.458+21G>A	ENSP00000502249.1:n.458+21G>A
ENST00000248553.6:c.428+21G>A	ENSP00000248553.6:n.428+21G>A
ENST00000429938.1:c.-77+21G>A	ENSP00000405285.1:n.-77+21G>A
ENST00000447574.1:c.*592+21G>A	ENSP00000414357.1:n.*592+21G>A
NM_001540.3:c.428+21G>A , LRG_248t1:c.428+21G>A	NP_001531.1:n.428+21G>A
NM_001540.4:c.428+21G>A	NP_001531.1:n.428+21G>A
NM_001540.5:c.428+21G>A MANE Select	NP_001531.1:n.428+21G>A