Canonical Allele Identifier: CA367765480

Gene: HSPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303843C>G , CM000669.2:g.76303843C>G	GRCh38
NC_000007.13:g.75933160C>G , CM000669.1:g.75933160C>G	GRCh37
NC_000007.12:g.75771096C>G	NCBI36
NG_008995.1:g.6286C>G , LRG_248:g.6286C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001540.5:c.406C>G MANE Select	NP_001531.1:p.Arg136Gly
ENST00000248553.7:c.406C>G MANE Select	ENSP00000248553.6:p.Arg136Gly
NM_001540.3:c.406C>G , LRG_248t1:c.406C>G	NP_001531.1:p.Arg136Gly
NM_001540.4:c.406C>G	NP_001531.1:p.Arg136Gly
ENST00000248553.6:c.406C>G	ENSP00000248553.6:p.Arg136Gly
ENST00000429938.1:c.-99C>G	ENSP00000405285.1:n.-99C>G
ENST00000447574.1:c.*570C>G	ENSP00000414357.1:n.*570C>G
ENST00000674547.1:c.406C>G	ENSP00000502461.1:p.Arg136Gly
ENST00000674638.1:c.401C>G	ENSP00000502651.1:p.Pro134Arg
ENST00000674650.1:c.365-141C>G	ENSP00000501628.1:n.365-141C>G
ENST00000674965.1:c.*62C>G	ENSP00000501765.1:n.*62C>G
ENST00000675134.1:c.406C>G	ENSP00000501831.1:p.Arg136Gly
ENST00000675226.1:c.405C>G	ENSP00000502510.1:p.Pro135=
ENST00000675417.1:n.639C>G
ENST00000675538.1:c.441C>G	ENSP00000502495.1:p.Pro147=
ENST00000675906.1:c.406C>G	ENSP00000502714.1:p.Arg136Gly
ENST00000676195.1:n.122C>G
ENST00000676231.1:c.436C>G	ENSP00000502249.1:p.Arg146Gly