Canonical Allele Identifier: CA367765276

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933123G>T (hg19) ; chr7:g.76303806G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303806G>T , CM000669.2:g.76303806G>T	GRCh38
NC_000007.13:g.75933123G>T , CM000669.1:g.75933123G>T	GRCh37
NC_000007.12:g.75771059G>T	NCBI36
NG_008995.1:g.6249G>T , LRG_248:g.6249G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.369G>T MANE Select	ENSP00000248553.6:p.Lys123Asn
ENST00000674547.1:c.369G>T	ENSP00000502461.1:p.Lys123Asn
ENST00000674638.1:c.365-1G>T	ENSP00000502651.1:n.365-1G>T
ENST00000674650.1:c.365-178G>T	ENSP00000501628.1:n.365-178G>T
ENST00000674965.1:c.*25G>T	ENSP00000501765.1:n.*25G>T
ENST00000675134.1:c.369G>T	ENSP00000501831.1:p.Lys123Asn
ENST00000675226.1:c.369-1G>T	ENSP00000502510.1:n.369-1G>T
ENST00000675417.1:n.602G>T
ENST00000675538.1:c.404G>T	ENSP00000502495.1:p.Ser135Ile
ENST00000675906.1:c.369G>T	ENSP00000502714.1:p.Lys123Asn
ENST00000676195.1:n.85G>T
ENST00000676231.1:c.399G>T	ENSP00000502249.1:p.Lys133Asn
ENST00000248553.6:c.369G>T	ENSP00000248553.6:p.Lys123Asn
ENST00000429938.1:c.-136G>T	ENSP00000405285.1:n.-136G>T
ENST00000447574.1:c.*533G>T	ENSP00000414357.1:n.*533G>T
NM_001540.3:c.369G>T , LRG_248t1:c.369G>T	NP_001531.1:p.Lys123Asn
NM_001540.4:c.369G>T	NP_001531.1:p.Lys123Asn
NM_001540.5:c.369G>T MANE Select	NP_001531.1:p.Lys123Asn