Canonical Allele Identifier: CA337796

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 216545
• ClinVar RCV Id: RCV000198307 ; RCV000765975 ; RCV001159593 ; RCV001531672 ; RCV001174181 ; RCV002354564
• dbSNP Id: rs367857772
• ExAC: 7:75933482 G / A
• gnomAD v2: 7-75933482-G-A
• gnomAD v3: 7-76304165-G-A
• gnomAD v4: 7-76304165-G-A
• MyVariant Identifiers: chr7:g.75933482G>A (hg19) ; chr7:g.76304165G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304165G>A , CM000669.2:g.76304165G>A	GRCh38
NC_000007.13:g.75933482G>A , CM000669.1:g.75933482G>A	GRCh37
NC_000007.12:g.75771418G>A	NCBI36
NG_008995.1:g.6608G>A , LRG_248:g.6608G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.610G>A MANE Select	ENSP00000248553.6:p.Ala204Thr
ENST00000674547.1:c.*201G>A	ENSP00000502461.1:n.*201G>A
ENST00000674638.1:c.*131G>A	ENSP00000502651.1:n.*131G>A
ENST00000674650.1:c.*120G>A	ENSP00000501628.1:n.*120G>A
ENST00000674965.1:c.*266G>A	ENSP00000501765.1:n.*266G>A
ENST00000675134.1:c.589G>A	ENSP00000501831.1:p.Ala197Thr
ENST00000675226.1:c.*120G>A	ENSP00000502510.1:n.*120G>A
ENST00000675417.1:n.961G>A
ENST00000675538.1:c.*120G>A	ENSP00000502495.1:n.*120G>A
ENST00000675906.1:c.*195G>A	ENSP00000502714.1:n.*195G>A
ENST00000676231.1:c.640G>A	ENSP00000502249.1:p.Ala214Thr
ENST00000248553.6:c.610G>A	ENSP00000248553.6:p.Ala204Thr
ENST00000429938.1:c.106G>A	ENSP00000405285.1:p.Ala36Thr
ENST00000447574.1:c.*774G>A	ENSP00000414357.1:n.*774G>A
NM_001540.3:c.610G>A , LRG_248t1:c.610G>A	NP_001531.1:p.Ala204Thr
NM_001540.4:c.610G>A	NP_001531.1:p.Ala204Thr
NM_001540.5:c.610G>A MANE Select	NP_001531.1:p.Ala204Thr