Canonical Allele Identifier: CA2578916992

Gene: HSPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303935C>A , CM000669.2:g.76303935C>A	GRCh38
NC_000007.13:g.75933252C>A , CM000669.1:g.75933252C>A	GRCh37
NC_000007.12:g.75771188C>A	NCBI36
NG_008995.1:g.6378C>A , LRG_248:g.6378C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.429-49C>A MANE Select	ENSP00000248553.6:n.429-49C>A
ENST00000674547.1:c.*19+47C>A	ENSP00000502461.1:n.*19+47C>A
ENST00000674638.1:c.424-49C>A	ENSP00000502651.1:n.424-49C>A
ENST00000674650.1:c.365-49C>A	ENSP00000501628.1:n.365-49C>A
ENST00000674965.1:c.*85-49C>A	ENSP00000501765.1:n.*85-49C>A
ENST00000675134.1:c.408-49C>A	ENSP00000501831.1:n.408-49C>A
ENST00000675226.1:c.428-49C>A	ENSP00000502510.1:n.428-49C>A
ENST00000675417.1:n.731C>A
ENST00000675538.1:c.464-49C>A	ENSP00000502495.1:n.464-49C>A
ENST00000675906.1:c.*14-49C>A	ENSP00000502714.1:n.*14-49C>A
ENST00000676231.1:c.459-49C>A	ENSP00000502249.1:n.459-49C>A
ENST00000248553.6:c.429-49C>A	ENSP00000248553.6:n.429-49C>A
ENST00000429938.1:c.-76-49C>A	ENSP00000405285.1:n.-76-49C>A
ENST00000447574.1:c.*593-49C>A	ENSP00000414357.1:n.*593-49C>A
NM_001540.3:c.429-49C>A , LRG_248t1:c.429-49C>A	NP_001531.1:n.429-49C>A
NM_001540.4:c.429-49C>A	NP_001531.1:n.429-49C>A
NM_001540.5:c.429-49C>A MANE Select	NP_001531.1:n.429-49C>A