Canonical Allele Identifier: CA456330546

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933171G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303854G>C , CM000669.2:g.76303854G>C	GRCh38
NC_000007.13:g.75933171G>C , CM000669.1:g.75933171G>C	GRCh37
NC_000007.12:g.75771107G>C	NCBI36
NG_008995.1:g.6297G>C , LRG_248:g.6297G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.417G>C MANE Select	ENSP00000248553.6:p.Thr139=
ENST00000674547.1:c.417G>C	ENSP00000502461.1:p.Thr139=
ENST00000674638.1:c.412G>C	ENSP00000502651.1:p.Ala138Pro
ENST00000674650.1:c.365-130G>C	ENSP00000501628.1:n.365-130G>C
ENST00000674965.1:c.*73G>C	ENSP00000501765.1:n.*73G>C
ENST00000675134.1:c.407+10G>C	ENSP00000501831.1:n.407+10G>C
ENST00000675226.1:c.416G>C	ENSP00000502510.1:p.Arg139Pro
ENST00000675417.1:n.650G>C
ENST00000675538.1:c.452G>C	ENSP00000502495.1:p.Arg151Pro
ENST00000675906.1:c.417G>C	ENSP00000502714.1:p.Thr139=
ENST00000676195.1:n.133G>C
ENST00000676231.1:c.447G>C	ENSP00000502249.1:p.Thr149=
ENST00000248553.6:c.417G>C	ENSP00000248553.6:p.Thr139=
ENST00000429938.1:c.-88G>C	ENSP00000405285.1:n.-88G>C
ENST00000447574.1:c.*581G>C	ENSP00000414357.1:n.*581G>C
NM_001540.3:c.417G>C , LRG_248t1:c.417G>C	NP_001531.1:p.Thr139=
NM_001540.4:c.417G>C	NP_001531.1:p.Thr139=
NM_001540.5:c.417G>C MANE Select	NP_001531.1:p.Thr139=