Canonical Allele Identifier: CA367765291

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933126C>A (hg19) ; chr7:g.76303809C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303809C>A , CM000669.2:g.76303809C>A	GRCh38
NC_000007.13:g.75933126C>A , CM000669.1:g.75933126C>A	GRCh37
NC_000007.12:g.75771062C>A	NCBI36
NG_008995.1:g.6252C>A , LRG_248:g.6252C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.372C>A MANE Select	ENSP00000248553.6:p.His124Gln
ENST00000674547.1:c.372C>A	ENSP00000502461.1:p.His124Gln
ENST00000674638.1:c.367C>A	ENSP00000502651.1:p.Arg123=
ENST00000674650.1:c.365-175C>A	ENSP00000501628.1:n.365-175C>A
ENST00000674965.1:c.*28C>A	ENSP00000501765.1:n.*28C>A
ENST00000675134.1:c.372C>A	ENSP00000501831.1:p.His124Gln
ENST00000675226.1:c.371C>A	ENSP00000502510.1:p.Thr124Lys
ENST00000675417.1:n.605C>A
ENST00000675538.1:c.407C>A	ENSP00000502495.1:p.Thr136Lys
ENST00000675906.1:c.372C>A	ENSP00000502714.1:p.His124Gln
ENST00000676195.1:n.88C>A
ENST00000676231.1:c.402C>A	ENSP00000502249.1:p.His134Gln
ENST00000248553.6:c.372C>A	ENSP00000248553.6:p.His124Gln
ENST00000429938.1:c.-133C>A	ENSP00000405285.1:n.-133C>A
ENST00000447574.1:c.*536C>A	ENSP00000414357.1:n.*536C>A
NM_001540.3:c.372C>A , LRG_248t1:c.372C>A	NP_001531.1:p.His124Gln
NM_001540.4:c.372C>A	NP_001531.1:p.His124Gln
NM_001540.5:c.372C>A MANE Select	NP_001531.1:p.His124Gln