Canonical Allele Identifier: CA456330618

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933424C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304107C>A , CM000669.2:g.76304107C>A	GRCh38
NC_000007.13:g.75933424C>A , CM000669.1:g.75933424C>A	GRCh37
NC_000007.12:g.75771360C>A	NCBI36
NG_008995.1:g.6550C>A , LRG_248:g.6550C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.552C>A MANE Select	ENSP00000248553.6:p.Thr184=
ENST00000674547.1:c.*143C>A	ENSP00000502461.1:n.*143C>A
ENST00000674638.1:c.*73C>A	ENSP00000502651.1:n.*73C>A
ENST00000674650.1:c.*62C>A	ENSP00000501628.1:n.*62C>A
ENST00000674965.1:c.*208C>A	ENSP00000501765.1:n.*208C>A
ENST00000675134.1:c.531C>A	ENSP00000501831.1:p.Thr177=
ENST00000675226.1:c.*62C>A	ENSP00000502510.1:n.*62C>A
ENST00000675417.1:n.903C>A
ENST00000675538.1:c.*62C>A	ENSP00000502495.1:n.*62C>A
ENST00000675906.1:c.*137C>A	ENSP00000502714.1:n.*137C>A
ENST00000676231.1:c.582C>A	ENSP00000502249.1:p.Thr194=
ENST00000248553.6:c.552C>A	ENSP00000248553.6:p.Thr184=
ENST00000429938.1:c.48C>A	ENSP00000405285.1:p.Thr16=
ENST00000447574.1:c.*716C>A	ENSP00000414357.1:n.*716C>A
NM_001540.3:c.552C>A , LRG_248t1:c.552C>A	NP_001531.1:p.Thr184=
NM_001540.4:c.552C>A	NP_001531.1:p.Thr184=
NM_001540.5:c.552C>A MANE Select	NP_001531.1:p.Thr184=