Canonical Allele Identifier: CA367765495

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933163T>A (hg19) ; chr7:g.76303846T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303846T>A , CM000669.2:g.76303846T>A	GRCh38
NC_000007.13:g.75933163T>A , CM000669.1:g.75933163T>A	GRCh37
NC_000007.12:g.75771099T>A	NCBI36
NG_008995.1:g.6289T>A , LRG_248:g.6289T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.409T>A MANE Select	ENSP00000248553.6:p.Cys137Ser
ENST00000674547.1:c.409T>A	ENSP00000502461.1:p.Cys137Ser
ENST00000674638.1:c.404T>A	ENSP00000502651.1:p.Val135Glu
ENST00000674650.1:c.365-138T>A	ENSP00000501628.1:n.365-138T>A
ENST00000674965.1:c.*65T>A	ENSP00000501765.1:n.*65T>A
ENST00000675134.1:c.407+2T>A	ENSP00000501831.1:n.407+2T>A
ENST00000675226.1:c.408T>A	ENSP00000502510.1:p.Gly136=
ENST00000675417.1:n.642T>A
ENST00000675538.1:c.444T>A	ENSP00000502495.1:p.Gly148=
ENST00000675906.1:c.409T>A	ENSP00000502714.1:p.Cys137Ser
ENST00000676195.1:n.125T>A
ENST00000676231.1:c.439T>A	ENSP00000502249.1:p.Cys147Ser
ENST00000248553.6:c.409T>A	ENSP00000248553.6:p.Cys137Ser
ENST00000429938.1:c.-96T>A	ENSP00000405285.1:n.-96T>A
ENST00000447574.1:c.*573T>A	ENSP00000414357.1:n.*573T>A
NM_001540.3:c.409T>A , LRG_248t1:c.409T>A	NP_001531.1:p.Cys137Ser
NM_001540.4:c.409T>A	NP_001531.1:p.Cys137Ser
NM_001540.5:c.409T>A MANE Select	NP_001531.1:p.Cys137Ser