Canonical Allele Identifier: CA4306382

Gene: HSPB1

Linked Data

• dbSNP Id: rs751728081
• ExAC: 7:75933164 G / C
• gnomAD v2: 7-75933164-G-C
• gnomAD v3: 7-76303847-G-C
• gnomAD v4: 7-76303847-G-C
• MyVariant Identifiers: chr7:g.75933164G>C (hg19) ; chr7:g.76303847G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303847G>C , CM000669.2:g.76303847G>C	GRCh38
NC_000007.13:g.75933164G>C , CM000669.1:g.75933164G>C	GRCh37
NC_000007.12:g.75771100G>C	NCBI36
NG_008995.1:g.6290G>C , LRG_248:g.6290G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.410G>C MANE Select	ENSP00000248553.6:p.Cys137Ser
ENST00000674547.1:c.410G>C	ENSP00000502461.1:p.Cys137Ser
ENST00000674638.1:c.405G>C	ENSP00000502651.1:p.Val135=
ENST00000674650.1:c.365-137G>C	ENSP00000501628.1:n.365-137G>C
ENST00000674965.1:c.*66G>C	ENSP00000501765.1:n.*66G>C
ENST00000675134.1:c.407+3G>C	ENSP00000501831.1:n.407+3G>C
ENST00000675226.1:c.409G>C	ENSP00000502510.1:p.Ala137Pro
ENST00000675417.1:n.643G>C
ENST00000675538.1:c.445G>C	ENSP00000502495.1:p.Ala149Pro
ENST00000675906.1:c.410G>C	ENSP00000502714.1:p.Cys137Ser
ENST00000676195.1:n.126G>C
ENST00000676231.1:c.440G>C	ENSP00000502249.1:p.Cys147Ser
ENST00000248553.6:c.410G>C	ENSP00000248553.6:p.Cys137Ser
ENST00000429938.1:c.-95G>C	ENSP00000405285.1:n.-95G>C
ENST00000447574.1:c.*574G>C	ENSP00000414357.1:n.*574G>C
NM_001540.3:c.410G>C , LRG_248t1:c.410G>C	NP_001531.1:p.Cys137Ser
NM_001540.4:c.410G>C	NP_001531.1:p.Cys137Ser
NM_001540.5:c.410G>C MANE Select	NP_001531.1:p.Cys137Ser