Canonical Allele Identifier: CA367765573

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933177A>T (hg19) ; chr7:g.76303860A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303860A>T , CM000669.2:g.76303860A>T	GRCh38
NC_000007.13:g.75933177A>T , CM000669.1:g.75933177A>T	GRCh37
NC_000007.12:g.75771113A>T	NCBI36
NG_008995.1:g.6303A>T , LRG_248:g.6303A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.423A>T MANE Select	ENSP00000248553.6:p.Lys141Asn
ENST00000674547.1:c.423A>T	ENSP00000502461.1:p.Lys141Asn
ENST00000674638.1:c.418A>T	ENSP00000502651.1:p.Ile140Leu
ENST00000674650.1:c.365-124A>T	ENSP00000501628.1:n.365-124A>T
ENST00000674965.1:c.*79A>T	ENSP00000501765.1:n.*79A>T
ENST00000675134.1:c.407+16A>T	ENSP00000501831.1:n.407+16A>T
ENST00000675226.1:c.422A>T	ENSP00000502510.1:p.Asn141Ile
ENST00000675417.1:n.656A>T
ENST00000675538.1:c.458A>T	ENSP00000502495.1:p.Asn153Ile
ENST00000675906.1:c.423A>T	ENSP00000502714.1:p.Lys141Asn
ENST00000676195.1:n.139A>T
ENST00000676231.1:c.453A>T	ENSP00000502249.1:p.Lys151Asn
ENST00000248553.6:c.423A>T	ENSP00000248553.6:p.Lys141Asn
ENST00000429938.1:c.-82A>T	ENSP00000405285.1:n.-82A>T
ENST00000447574.1:c.*587A>T	ENSP00000414357.1:n.*587A>T
NM_001540.3:c.423A>T , LRG_248t1:c.423A>T	NP_001531.1:p.Lys141Asn
NM_001540.4:c.423A>T	NP_001531.1:p.Lys141Asn
NM_001540.5:c.423A>T MANE Select	NP_001531.1:p.Lys141Asn