Canonical Allele Identifier: CA350199459

Gene: HSPD1

Linked Data

• ClinVar Variation Id: 2057380
• ClinVar RCV Id: RCV002914845
• gnomAD v4: 2-197489087-T-C
• MyVariant Identifiers: chr2:g.198353811T>C (hg19) ; chr2:g.197489087T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197489087T>C , CM000664.2:g.197489087T>C	GRCh38
NC_000002.11:g.198353811T>C , CM000664.1:g.198353811T>C	GRCh37
NC_000002.10:g.198062056T>C	NCBI36
NG_008915.1:g.16188A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388968.8:c.1130A>G MANE Select	ENSP00000373620.3:p.Gln377Arg
ENST00000418022.2:c.1130A>G	ENSP00000412227.2:p.Gln377Arg
ENST00000426480.2:c.1130A>G	ENSP00000414446.2:p.Gln377Arg
ENST00000428204.6:c.1130A>G	ENSP00000396460.2:p.Gln377Arg
ENST00000439605.2:c.1130A>G	ENSP00000402478.2:p.Gln377Arg
ENST00000440114.2:c.*936A>G	ENSP00000390404.1:n.*936A>G
ENST00000452200.6:c.1130A>G	ENSP00000412717.2:p.Gln377Arg
ENST00000461097.2:n.3878A>G
ENST00000476746.6:n.2178A>G
ENST00000676933.1:c.1034A>G	ENSP00000503144.1:p.Gln345Arg
ENST00000677403.1:c.*126A>G	ENSP00000504667.1:n.*126A>G
ENST00000677454.1:c.1268A>G	ENSP00000503295.1:n.1268A>G
ENST00000677792.1:c.*139A>G	ENSP00000504645.1:n.*139A>G
ENST00000677913.1:c.1130A>G	ENSP00000503139.1:p.Gln377Arg
ENST00000678170.1:c.857A>G	ENSP00000503910.1:p.Gln286Arg
ENST00000678545.1:c.*440A>G	ENSP00000502920.1:n.*440A>G
ENST00000678621.1:c.1130A>G	ENSP00000504328.1:p.Gln377Arg
ENST00000678761.1:c.1130A>G	ENSP00000503894.1:p.Gln377Arg
ENST00000678969.1:n.2720A>G
ENST00000679291.1:c.*139A>G	ENSP00000504417.1:n.*139A>G
ENST00000345042.6:c.1130A>G	ENSP00000340019.2:p.Gln377Arg
ENST00000388968.7:c.1130A>G	ENSP00000373620.3:p.Gln377Arg
ENST00000491249.1:n.537A>G
NM_002156.4:c.1130A>G	NP_002147.2:p.Gln377Arg
NM_199440.1:c.1130A>G	NP_955472.1:p.Gln377Arg
XM_005246518.2:c.1130A>G	XP_005246575.1:p.Gln377Arg
NM_002156.5:c.1130A>G MANE Select	NP_002147.2:p.Gln377Arg
NM_199440.2:c.1130A>G	NP_955472.1:p.Gln377Arg