Canonical Allele Identifier: CA575786688

Gene: HSPB1

Linked Data

• dbSNP Id: rs1263831811
• gnomAD v2: 7-75933256-C-T
• MyVariant Identifiers: chr7:g.75933256C>T (hg19) ; chr7:g.76303939C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303939C>T , CM000669.2:g.76303939C>T	GRCh38
NC_000007.13:g.75933256C>T , CM000669.1:g.75933256C>T	GRCh37
NC_000007.12:g.75771192C>T	NCBI36
NG_008995.1:g.6382C>T , LRG_248:g.6382C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.429-45C>T MANE Select	ENSP00000248553.6:n.429-45C>T
ENST00000674547.1:c.*20-45C>T	ENSP00000502461.1:n.*20-45C>T
ENST00000674638.1:c.424-45C>T	ENSP00000502651.1:n.424-45C>T
ENST00000674650.1:c.365-45C>T	ENSP00000501628.1:n.365-45C>T
ENST00000674965.1:c.*85-45C>T	ENSP00000501765.1:n.*85-45C>T
ENST00000675134.1:c.408-45C>T	ENSP00000501831.1:n.408-45C>T
ENST00000675226.1:c.428-45C>T	ENSP00000502510.1:n.428-45C>T
ENST00000675417.1:n.735C>T
ENST00000675538.1:c.464-45C>T	ENSP00000502495.1:n.464-45C>T
ENST00000675906.1:c.*14-45C>T	ENSP00000502714.1:n.*14-45C>T
ENST00000676231.1:c.459-45C>T	ENSP00000502249.1:n.459-45C>T
ENST00000248553.6:c.429-45C>T	ENSP00000248553.6:n.429-45C>T
ENST00000429938.1:c.-76-45C>T	ENSP00000405285.1:n.-76-45C>T
ENST00000447574.1:c.*593-45C>T	ENSP00000414357.1:n.*593-45C>T
NM_001540.3:c.429-45C>T , LRG_248t1:c.429-45C>T	NP_001531.1:n.429-45C>T
NM_001540.4:c.429-45C>T	NP_001531.1:n.429-45C>T
NM_001540.5:c.429-45C>T MANE Select	NP_001531.1:n.429-45C>T