Canonical Allele Identifier: CA4306451

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 385089
• ClinVar RCV Id: RCV000439558 ; RCV000475381 ; RCV001172563 ; RCV001697817 ; RCV002348197
• dbSNP Id: rs34771861
• ExAC: 7:75933445 T / C
• gnomAD v2: 7-75933445-T-C
• gnomAD v3: 7-76304128-T-C
• gnomAD v4: 7-76304128-T-C
• MyVariant Identifiers: chr7:g.75933445T>C (hg19) ; chr7:g.75933445_75933448delinsCGGG (hg19) ; chr7:g.76304128T>C (hg38) ; chr7:g.76304128_76304131delinsCGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304128T>C , CM000669.2:g.76304128T>C	GRCh38
NC_000007.13:g.75933445T>C , CM000669.1:g.75933445T>C	GRCh37
NC_000007.12:g.75771381T>C	NCBI36
NG_008995.1:g.6571T>C , LRG_248:g.6571T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.573T>C MANE Select	ENSP00000248553.6:p.Leu191=
ENST00000674547.1:c.*164T>C	ENSP00000502461.1:n.*164T>C
ENST00000674638.1:c.*94T>C	ENSP00000502651.1:n.*94T>C
ENST00000674650.1:c.*83T>C	ENSP00000501628.1:n.*83T>C
ENST00000674965.1:c.*229T>C	ENSP00000501765.1:n.*229T>C
ENST00000675134.1:c.552T>C	ENSP00000501831.1:p.Leu184=
ENST00000675226.1:c.*83T>C	ENSP00000502510.1:n.*83T>C
ENST00000675417.1:n.924T>C
ENST00000675538.1:c.*83T>C	ENSP00000502495.1:n.*83T>C
ENST00000675906.1:c.*158T>C	ENSP00000502714.1:n.*158T>C
ENST00000676231.1:c.603T>C	ENSP00000502249.1:p.Leu201=
ENST00000248553.6:c.573T>C	ENSP00000248553.6:p.Leu191=
ENST00000429938.1:c.69T>C	ENSP00000405285.1:p.Leu23=
ENST00000447574.1:c.*737T>C	ENSP00000414357.1:n.*737T>C
NM_001540.3:c.573T>C , LRG_248t1:c.573T>C	NP_001531.1:p.Leu191=
NM_001540.4:c.573T>C	NP_001531.1:p.Leu191=
NM_001540.5:c.573T>C MANE Select	NP_001531.1:p.Leu191=