Canonical Allele Identifier: CA367766397

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933423C>A (hg19) ; chr7:g.76304106C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304106C>A , CM000669.2:g.76304106C>A	GRCh38
NC_000007.13:g.75933423C>A , CM000669.1:g.75933423C>A	GRCh37
NC_000007.12:g.75771359C>A	NCBI36
NG_008995.1:g.6549C>A , LRG_248:g.6549C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.551C>A MANE Select	ENSP00000248553.6:p.Thr184Asn
ENST00000674547.1:c.*142C>A	ENSP00000502461.1:n.*142C>A
ENST00000674638.1:c.*72C>A	ENSP00000502651.1:n.*72C>A
ENST00000674650.1:c.*61C>A	ENSP00000501628.1:n.*61C>A
ENST00000674965.1:c.*207C>A	ENSP00000501765.1:n.*207C>A
ENST00000675134.1:c.530C>A	ENSP00000501831.1:p.Thr177Asn
ENST00000675226.1:c.*61C>A	ENSP00000502510.1:n.*61C>A
ENST00000675417.1:n.902C>A
ENST00000675538.1:c.*61C>A	ENSP00000502495.1:n.*61C>A
ENST00000675906.1:c.*136C>A	ENSP00000502714.1:n.*136C>A
ENST00000676231.1:c.581C>A	ENSP00000502249.1:p.Thr194Asn
ENST00000248553.6:c.551C>A	ENSP00000248553.6:p.Thr184Asn
ENST00000429938.1:c.47C>A	ENSP00000405285.1:p.Thr16Asn
ENST00000447574.1:c.*715C>A	ENSP00000414357.1:n.*715C>A
NM_001540.3:c.551C>A , LRG_248t1:c.551C>A	NP_001531.1:p.Thr184Asn
NM_001540.4:c.551C>A	NP_001531.1:p.Thr184Asn
NM_001540.5:c.551C>A MANE Select	NP_001531.1:p.Thr184Asn