Canonical Allele Identifier: CA367765358

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933138G>T (hg19) ; chr7:g.76303821G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303821G>T , CM000669.2:g.76303821G>T	GRCh38
NC_000007.13:g.75933138G>T , CM000669.1:g.75933138G>T	GRCh37
NC_000007.12:g.75771074G>T	NCBI36
NG_008995.1:g.6264G>T , LRG_248:g.6264G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.384G>T MANE Select	ENSP00000248553.6:p.Gln128His
ENST00000674547.1:c.384G>T	ENSP00000502461.1:p.Gln128His
ENST00000674638.1:c.379G>T	ENSP00000502651.1:p.Gly127Ter
ENST00000674650.1:c.365-163G>T	ENSP00000501628.1:n.365-163G>T
ENST00000674965.1:c.*40G>T	ENSP00000501765.1:n.*40G>T
ENST00000675134.1:c.384G>T	ENSP00000501831.1:p.Gln128His
ENST00000675226.1:c.383G>T	ENSP00000502510.1:p.Arg128Met
ENST00000675417.1:n.617G>T
ENST00000675538.1:c.419G>T	ENSP00000502495.1:p.Arg140Met
ENST00000675906.1:c.384G>T	ENSP00000502714.1:p.Gln128His
ENST00000676195.1:n.100G>T
ENST00000676231.1:c.414G>T	ENSP00000502249.1:p.Gln138His
ENST00000248553.6:c.384G>T	ENSP00000248553.6:p.Gln128His
ENST00000429938.1:c.-121G>T	ENSP00000405285.1:n.-121G>T
ENST00000447574.1:c.*548G>T	ENSP00000414357.1:n.*548G>T
NM_001540.3:c.384G>T , LRG_248t1:c.384G>T	NP_001531.1:p.Gln128His
NM_001540.4:c.384G>T	NP_001531.1:p.Gln128His
NM_001540.5:c.384G>T MANE Select	NP_001531.1:p.Gln128His