Canonical Allele Identifier: CA160901353

Gene: HSPB1

Linked Data

• dbSNP Id: rs898362811
• gnomAD v2: 7-75933142-G-A
• gnomAD v3: 7-76303825-G-A
• gnomAD v4: 7-76303825-G-A
• MyVariant Identifiers: chr7:g.75933142G>A (hg19) ; chr7:g.76303825G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303825G>A , CM000669.2:g.76303825G>A	GRCh38
NC_000007.13:g.75933142G>A , CM000669.1:g.75933142G>A	GRCh37
NC_000007.12:g.75771078G>A	NCBI36
NG_008995.1:g.6268G>A , LRG_248:g.6268G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.388G>A MANE Select	ENSP00000248553.6:p.Glu130Lys
ENST00000674547.1:c.388G>A	ENSP00000502461.1:p.Glu130Lys
ENST00000674638.1:c.383G>A	ENSP00000502651.1:p.Arg128Gln
ENST00000674650.1:c.365-159G>A	ENSP00000501628.1:n.365-159G>A
ENST00000674965.1:c.*44G>A	ENSP00000501765.1:n.*44G>A
ENST00000675134.1:c.388G>A	ENSP00000501831.1:p.Glu130Lys
ENST00000675226.1:c.387G>A	ENSP00000502510.1:p.Thr129=
ENST00000675417.1:n.621G>A
ENST00000675538.1:c.423G>A	ENSP00000502495.1:p.Thr141=
ENST00000675906.1:c.388G>A	ENSP00000502714.1:p.Glu130Lys
ENST00000676195.1:n.104G>A
ENST00000676231.1:c.418G>A	ENSP00000502249.1:p.Glu140Lys
ENST00000248553.6:c.388G>A	ENSP00000248553.6:p.Glu130Lys
ENST00000429938.1:c.-117G>A	ENSP00000405285.1:n.-117G>A
ENST00000447574.1:c.*552G>A	ENSP00000414357.1:n.*552G>A
NM_001540.3:c.388G>A , LRG_248t1:c.388G>A	NP_001531.1:p.Glu130Lys
NM_001540.4:c.388G>A	NP_001531.1:p.Glu130Lys
NM_001540.5:c.388G>A MANE Select	NP_001531.1:p.Glu130Lys