Canonical Allele Identifier: CA4306368

Gene: HSPB1

Linked Data

• dbSNP Id: rs376361593
• ExAC: 7:75933127 G / T
• gnomAD v2: 7-75933127-G-T
• gnomAD v4: 7-76303810-G-T
• MyVariant Identifiers: chr7:g.75933127G>T (hg19) ; chr7:g.76303810G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303810G>T , CM000669.2:g.76303810G>T	GRCh38
NC_000007.13:g.75933127G>T , CM000669.1:g.75933127G>T	GRCh37
NC_000007.12:g.75771063G>T	NCBI36
NG_008995.1:g.6253G>T , LRG_248:g.6253G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.373G>T MANE Select	ENSP00000248553.6:p.Glu125Ter
ENST00000674547.1:c.373G>T	ENSP00000502461.1:p.Glu125Ter
ENST00000674638.1:c.368G>T	ENSP00000502651.1:p.Arg123Leu
ENST00000674650.1:c.365-174G>T	ENSP00000501628.1:n.365-174G>T
ENST00000674965.1:c.*29G>T	ENSP00000501765.1:n.*29G>T
ENST00000675134.1:c.373G>T	ENSP00000501831.1:p.Glu125Ter
ENST00000675226.1:c.372G>T	ENSP00000502510.1:p.Thr124=
ENST00000675417.1:n.606G>T
ENST00000675538.1:c.408G>T	ENSP00000502495.1:p.Thr136=
ENST00000675906.1:c.373G>T	ENSP00000502714.1:p.Glu125Ter
ENST00000676195.1:n.89G>T
ENST00000676231.1:c.403G>T	ENSP00000502249.1:p.Glu135Ter
ENST00000248553.6:c.373G>T	ENSP00000248553.6:p.Glu125Ter
ENST00000429938.1:c.-132G>T	ENSP00000405285.1:n.-132G>T
ENST00000447574.1:c.*537G>T	ENSP00000414357.1:n.*537G>T
NM_001540.3:c.373G>T , LRG_248t1:c.373G>T	NP_001531.1:p.Glu125Ter
NM_001540.4:c.373G>T	NP_001531.1:p.Glu125Ter
NM_001540.5:c.373G>T MANE Select	NP_001531.1:p.Glu125Ter