Canonical Allele Identifier: CA367765612

Gene: HSPB1

Linked Data

• dbSNP Id: rs1803060816
• MyVariant Identifiers: chr7:g.75933184T>C (hg19) ; chr7:g.76303867T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303867T>C , CM000669.2:g.76303867T>C	GRCh38
NC_000007.13:g.75933184T>C , CM000669.1:g.75933184T>C	GRCh37
NC_000007.12:g.75771120T>C	NCBI36
NG_008995.1:g.6310T>C , LRG_248:g.6310T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.428+2T>C MANE Select	ENSP00000248553.6:n.428+2T>C
ENST00000674547.1:c.430T>C	ENSP00000502461.1:p.Ter144Arg
ENST00000674638.1:c.423+2T>C	ENSP00000502651.1:n.423+2T>C
ENST00000674650.1:c.365-117T>C	ENSP00000501628.1:n.365-117T>C
ENST00000674965.1:c.*84+2T>C	ENSP00000501765.1:n.*84+2T>C
ENST00000675134.1:c.407+23T>C	ENSP00000501831.1:n.407+23T>C
ENST00000675226.1:c.427+2T>C	ENSP00000502510.1:n.427+2T>C
ENST00000675417.1:n.663T>C
ENST00000675538.1:c.463+2T>C	ENSP00000502495.1:n.463+2T>C
ENST00000675906.1:c.430T>C	ENSP00000502714.1:p.Ter144Arg
ENST00000676231.1:c.458+2T>C	ENSP00000502249.1:n.458+2T>C
ENST00000248553.6:c.428+2T>C	ENSP00000248553.6:n.428+2T>C
ENST00000429938.1:c.-77+2T>C	ENSP00000405285.1:n.-77+2T>C
ENST00000447574.1:c.*592+2T>C	ENSP00000414357.1:n.*592+2T>C
NM_001540.3:c.428+2T>C , LRG_248t1:c.428+2T>C	NP_001531.1:n.428+2T>C
NM_001540.4:c.428+2T>C	NP_001531.1:n.428+2T>C
NM_001540.5:c.428+2T>C MANE Select	NP_001531.1:n.428+2T>C