Canonical Allele Identifier: CA367766381

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933420T>A (hg19) ; chr7:g.76304103T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304103T>A , CM000669.2:g.76304103T>A	GRCh38
NC_000007.13:g.75933420T>A , CM000669.1:g.75933420T>A	GRCh37
NC_000007.12:g.75771356T>A	NCBI36
NG_008995.1:g.6546T>A , LRG_248:g.6546T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.548T>A MANE Select	ENSP00000248553.6:p.Val183Asp
ENST00000674547.1:c.*139T>A	ENSP00000502461.1:n.*139T>A
ENST00000674638.1:c.*69T>A	ENSP00000502651.1:n.*69T>A
ENST00000674650.1:c.*58T>A	ENSP00000501628.1:n.*58T>A
ENST00000674965.1:c.*204T>A	ENSP00000501765.1:n.*204T>A
ENST00000675134.1:c.527T>A	ENSP00000501831.1:p.Val176Asp
ENST00000675226.1:c.*58T>A	ENSP00000502510.1:n.*58T>A
ENST00000675417.1:n.899T>A
ENST00000675538.1:c.*58T>A	ENSP00000502495.1:n.*58T>A
ENST00000675906.1:c.*133T>A	ENSP00000502714.1:n.*133T>A
ENST00000676231.1:c.578T>A	ENSP00000502249.1:p.Val193Asp
ENST00000248553.6:c.548T>A	ENSP00000248553.6:p.Val183Asp
ENST00000429938.1:c.44T>A	ENSP00000405285.1:p.Val15Asp
ENST00000447574.1:c.*712T>A	ENSP00000414357.1:n.*712T>A
NM_001540.3:c.548T>A , LRG_248t1:c.548T>A	NP_001531.1:p.Val183Asp
NM_001540.4:c.548T>A	NP_001531.1:p.Val183Asp
NM_001540.5:c.548T>A MANE Select	NP_001531.1:p.Val183Asp