Canonical Allele Identifier: CA367766389

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933422A>C (hg19) ; chr7:g.76304105A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304105A>C , CM000669.2:g.76304105A>C	GRCh38
NC_000007.13:g.75933422A>C , CM000669.1:g.75933422A>C	GRCh37
NC_000007.12:g.75771358A>C	NCBI36
NG_008995.1:g.6548A>C , LRG_248:g.6548A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.550A>C MANE Select	ENSP00000248553.6:p.Thr184Pro
ENST00000674547.1:c.*141A>C	ENSP00000502461.1:n.*141A>C
ENST00000674638.1:c.*71A>C	ENSP00000502651.1:n.*71A>C
ENST00000674650.1:c.*60A>C	ENSP00000501628.1:n.*60A>C
ENST00000674965.1:c.*206A>C	ENSP00000501765.1:n.*206A>C
ENST00000675134.1:c.529A>C	ENSP00000501831.1:p.Thr177Pro
ENST00000675226.1:c.*60A>C	ENSP00000502510.1:n.*60A>C
ENST00000675417.1:n.901A>C
ENST00000675538.1:c.*60A>C	ENSP00000502495.1:n.*60A>C
ENST00000675906.1:c.*135A>C	ENSP00000502714.1:n.*135A>C
ENST00000676231.1:c.580A>C	ENSP00000502249.1:p.Thr194Pro
ENST00000248553.6:c.550A>C	ENSP00000248553.6:p.Thr184Pro
ENST00000429938.1:c.46A>C	ENSP00000405285.1:p.Thr16Pro
ENST00000447574.1:c.*714A>C	ENSP00000414357.1:n.*714A>C
NM_001540.3:c.550A>C , LRG_248t1:c.550A>C	NP_001531.1:p.Thr184Pro
NM_001540.4:c.550A>C	NP_001531.1:p.Thr184Pro
NM_001540.5:c.550A>C MANE Select	NP_001531.1:p.Thr184Pro