Canonical Allele Identifier: CA367765528

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933168C>A (hg19) ; chr7:g.76303851C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303851C>A , CM000669.2:g.76303851C>A	GRCh38
NC_000007.13:g.75933168C>A , CM000669.1:g.75933168C>A	GRCh37
NC_000007.12:g.75771104C>A	NCBI36
NG_008995.1:g.6294C>A , LRG_248:g.6294C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.414C>A MANE Select	ENSP00000248553.6:p.Phe138Leu
ENST00000674547.1:c.414C>A	ENSP00000502461.1:p.Phe138Leu
ENST00000674638.1:c.409C>A	ENSP00000502651.1:p.His137Asn
ENST00000674650.1:c.365-133C>A	ENSP00000501628.1:n.365-133C>A
ENST00000674965.1:c.*70C>A	ENSP00000501765.1:n.*70C>A
ENST00000675134.1:c.407+7C>A	ENSP00000501831.1:n.407+7C>A
ENST00000675226.1:c.413C>A	ENSP00000502510.1:p.Ser138Ter
ENST00000675417.1:n.647C>A
ENST00000675538.1:c.449C>A	ENSP00000502495.1:p.Ser150Ter
ENST00000675906.1:c.414C>A	ENSP00000502714.1:p.Phe138Leu
ENST00000676195.1:n.130C>A
ENST00000676231.1:c.444C>A	ENSP00000502249.1:p.Phe148Leu
ENST00000248553.6:c.414C>A	ENSP00000248553.6:p.Phe138Leu
ENST00000429938.1:c.-91C>A	ENSP00000405285.1:n.-91C>A
ENST00000447574.1:c.*578C>A	ENSP00000414357.1:n.*578C>A
NM_001540.3:c.414C>A , LRG_248t1:c.414C>A	NP_001531.1:p.Phe138Leu
NM_001540.4:c.414C>A	NP_001531.1:p.Phe138Leu
NM_001540.5:c.414C>A MANE Select	NP_001531.1:p.Phe138Leu