Canonical Allele Identifier: CA456330425

Gene: HSPB1

Linked Data

• dbSNP Id: rs1803060522
• gnomAD v4: 7-76303857-G-A
• MyVariant Identifiers: chr7:g.75933174G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303857G>A , CM000669.2:g.76303857G>A	GRCh38
NC_000007.13:g.75933174G>A , CM000669.1:g.75933174G>A	GRCh37
NC_000007.12:g.75771110G>A	NCBI36
NG_008995.1:g.6300G>A , LRG_248:g.6300G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.420G>A MANE Select	ENSP00000248553.6:p.Arg140=
ENST00000674547.1:c.420G>A	ENSP00000502461.1:p.Arg140=
ENST00000674638.1:c.415G>A	ENSP00000502651.1:p.Glu139Lys
ENST00000674650.1:c.365-127G>A	ENSP00000501628.1:n.365-127G>A
ENST00000674965.1:c.*76G>A	ENSP00000501765.1:n.*76G>A
ENST00000675134.1:c.407+13G>A	ENSP00000501831.1:n.407+13G>A
ENST00000675226.1:c.419G>A	ENSP00000502510.1:p.Gly140Glu
ENST00000675417.1:n.653G>A
ENST00000675538.1:c.455G>A	ENSP00000502495.1:p.Gly152Glu
ENST00000675906.1:c.420G>A	ENSP00000502714.1:p.Arg140=
ENST00000676195.1:n.136G>A
ENST00000676231.1:c.450G>A	ENSP00000502249.1:p.Arg150=
ENST00000248553.6:c.420G>A	ENSP00000248553.6:p.Arg140=
ENST00000429938.1:c.-85G>A	ENSP00000405285.1:n.-85G>A
ENST00000447574.1:c.*584G>A	ENSP00000414357.1:n.*584G>A
NM_001540.3:c.420G>A , LRG_248t1:c.420G>A	NP_001531.1:p.Arg140=
NM_001540.4:c.420G>A	NP_001531.1:p.Arg140=
NM_001540.5:c.420G>A MANE Select	NP_001531.1:p.Arg140=