Canonical Allele Identifier: CA456330516

Gene: HSPB1

Linked Data

• gnomAD v2: 7-75933160-C-A
• MyVariant Identifiers: chr7:g.75933160C>A (hg19) ; chr7:g.75933160_75933161delinsAG (hg19) ; chr7:g.76303843_76303844delinsAG (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.406C>A MANE Select	ENSP00000248553.6:p.Arg136=
ENST00000674547.1:c.406C>A	ENSP00000502461.1:p.Arg136=
ENST00000674638.1:c.401C>A	ENSP00000502651.1:p.Pro134Gln
ENST00000674650.1:c.365-141C>A	ENSP00000501628.1:n.365-141C>A
ENST00000674965.1:c.*62C>A	ENSP00000501765.1:n.*62C>A
ENST00000675134.1:c.406C>A	ENSP00000501831.1:p.Arg136=
ENST00000675226.1:c.405C>A	ENSP00000502510.1:p.Pro135=
ENST00000675417.1:n.639C>A
ENST00000675538.1:c.441C>A	ENSP00000502495.1:p.Pro147=
ENST00000675906.1:c.406C>A	ENSP00000502714.1:p.Arg136=
ENST00000676195.1:n.122C>A
ENST00000676231.1:c.436C>A	ENSP00000502249.1:p.Arg146=
ENST00000248553.6:c.406C>A	ENSP00000248553.6:p.Arg136=
ENST00000429938.1:c.-99C>A	ENSP00000405285.1:n.-99C>A
ENST00000447574.1:c.*570C>A	ENSP00000414357.1:n.*570C>A
NM_001540.3:c.406C>A , LRG_248t1:c.406C>A	NP_001531.1:p.Arg136=
NM_001540.4:c.406C>A	NP_001531.1:p.Arg136=
NM_001540.5:c.406C>A MANE Select	NP_001531.1:p.Arg136=