Canonical Allele Identifier: CA575786663

Gene: HSPB1

Linked Data

• dbSNP Id: rs1169656002
• gnomAD v2: 7-75933187-G-T
• gnomAD v4: 7-76303870-G-T
• MyVariant Identifiers: chr7:g.75933187G>T (hg19) ; chr7:g.76303870G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303870G>T , CM000669.2:g.76303870G>T	GRCh38
NC_000007.13:g.75933187G>T , CM000669.1:g.75933187G>T	GRCh37
NC_000007.12:g.75771123G>T	NCBI36
NG_008995.1:g.6313G>T , LRG_248:g.6313G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.428+5G>T MANE Select	ENSP00000248553.6:n.428+5G>T
ENST00000674547.1:c.*1G>T	ENSP00000502461.1:n.*1G>T
ENST00000674638.1:c.423+5G>T	ENSP00000502651.1:n.423+5G>T
ENST00000674650.1:c.365-114G>T	ENSP00000501628.1:n.365-114G>T
ENST00000674965.1:c.*84+5G>T	ENSP00000501765.1:n.*84+5G>T
ENST00000675134.1:c.407+26G>T	ENSP00000501831.1:n.407+26G>T
ENST00000675226.1:c.427+5G>T	ENSP00000502510.1:n.427+5G>T
ENST00000675417.1:n.666G>T
ENST00000675538.1:c.463+5G>T	ENSP00000502495.1:n.463+5G>T
ENST00000675906.1:c.*1G>T	ENSP00000502714.1:n.*1G>T
ENST00000676231.1:c.458+5G>T	ENSP00000502249.1:n.458+5G>T
ENST00000248553.6:c.428+5G>T	ENSP00000248553.6:n.428+5G>T
ENST00000429938.1:c.-77+5G>T	ENSP00000405285.1:n.-77+5G>T
ENST00000447574.1:c.*592+5G>T	ENSP00000414357.1:n.*592+5G>T
NM_001540.3:c.428+5G>T , LRG_248t1:c.428+5G>T	NP_001531.1:n.428+5G>T
NM_001540.4:c.428+5G>T	NP_001531.1:n.428+5G>T
NM_001540.5:c.428+5G>T MANE Select	NP_001531.1:n.428+5G>T