Canonical Allele Identifier: CA367765430

Gene: HSPB1

Linked Data

• dbSNP Id: rs1674244013
• MyVariant Identifiers: chr7:g.75933151T>C (hg19) ; chr7:g.76303834T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303834T>C , CM000669.2:g.76303834T>C	GRCh38
NC_000007.13:g.75933151T>C , CM000669.1:g.75933151T>C	GRCh37
NC_000007.12:g.75771087T>C	NCBI36
NG_008995.1:g.6277T>C , LRG_248:g.6277T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.397T>C MANE Select	ENSP00000248553.6:p.Tyr133His
ENST00000674547.1:c.397T>C	ENSP00000502461.1:p.Tyr133His
ENST00000674638.1:c.392T>C	ENSP00000502651.1:p.Leu131Pro
ENST00000674650.1:c.365-150T>C	ENSP00000501628.1:n.365-150T>C
ENST00000674965.1:c.*53T>C	ENSP00000501765.1:n.*53T>C
ENST00000675134.1:c.397T>C	ENSP00000501831.1:p.Tyr133His
ENST00000675226.1:c.396T>C	ENSP00000502510.1:p.Ala132=
ENST00000675417.1:n.630T>C
ENST00000675538.1:c.432T>C	ENSP00000502495.1:p.Ala144=
ENST00000675906.1:c.397T>C	ENSP00000502714.1:p.Tyr133His
ENST00000676195.1:n.113T>C
ENST00000676231.1:c.427T>C	ENSP00000502249.1:p.Tyr143His
ENST00000248553.6:c.397T>C	ENSP00000248553.6:p.Tyr133His
ENST00000429938.1:c.-108T>C	ENSP00000405285.1:n.-108T>C
ENST00000447574.1:c.*561T>C	ENSP00000414357.1:n.*561T>C
NM_001540.3:c.397T>C , LRG_248t1:c.397T>C	NP_001531.1:p.Tyr133His
NM_001540.4:c.397T>C	NP_001531.1:p.Tyr133His
NM_001540.5:c.397T>C MANE Select	NP_001531.1:p.Tyr133His