Canonical Allele Identifier: CA4306307

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 382632
• ClinVar RCV Id: RCV000438162 ; RCV000470231 ; RCV001720149 ; RCV002323604 ; RCV003932604
• dbSNP Id: rs750349055
• ExAC: 7:75932347 G / C
• gnomAD v2: 7-75932347-G-C
• gnomAD v3: 7-76303030-G-C
• gnomAD v4: 7-76303030-G-C
• MyVariant Identifiers: chr7:g.75932347G>C (hg19) ; chr7:g.76303030G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303030G>C , CM000669.2:g.76303030G>C	GRCh38
NC_000007.13:g.75932347G>C , CM000669.1:g.75932347G>C	GRCh37
NC_000007.12:g.75770283G>C	NCBI36
NG_008995.1:g.5473G>C , LRG_248:g.5473G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.318G>C MANE Select	ENSP00000248553.6:p.Pro106=
ENST00000674547.1:c.318G>C	ENSP00000502461.1:p.Pro106=
ENST00000674560.1:n.358G>C
ENST00000674638.1:c.318G>C	ENSP00000502651.1:p.Pro106=
ENST00000674650.1:c.318G>C	ENSP00000501628.1:p.Pro106=
ENST00000674965.1:c.318G>C	ENSP00000501765.1:p.Pro106=
ENST00000675134.1:c.318G>C	ENSP00000501831.1:p.Pro106=
ENST00000675226.1:c.318G>C	ENSP00000502510.1:p.Pro106=
ENST00000675488.1:n.358G>C
ENST00000675538.1:c.318G>C	ENSP00000502495.1:p.Pro106=
ENST00000675624.1:n.358G>C
ENST00000675733.1:n.358G>C
ENST00000675906.1:c.318G>C	ENSP00000502714.1:p.Pro106=
ENST00000676231.1:c.318G>C	ENSP00000502249.1:p.Pro106=
ENST00000676398.1:n.358G>C
ENST00000248553.6:c.318G>C	ENSP00000248553.6:p.Pro106=
ENST00000447574.1:c.318G>C	ENSP00000414357.1:p.Pro106=
NM_001540.3:c.318G>C , LRG_248t1:c.318G>C	NP_001531.1:p.Pro106=
NM_001540.4:c.318G>C	NP_001531.1:p.Pro106=
NM_001540.5:c.318G>C MANE Select	NP_001531.1:p.Pro106=