Canonical Allele Identifier: CA62856264

Gene: HSPD1

Linked Data

• ClinVar Variation Id: 1345923
• ClinVar RCV Id: RCV002029733
• dbSNP Id: rs953604247
• gnomAD v2: 2-198358094-C-T
• gnomAD v3: 2-197493370-C-T
• gnomAD v4: 2-197493370-C-T
• MyVariant Identifiers: chr2:g.198358094C>T (hg19) ; chr2:g.197493370C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197493370C>T , CM000664.2:g.197493370C>T	GRCh38
NC_000002.11:g.198358094C>T , CM000664.1:g.198358094C>T	GRCh37
NC_000002.10:g.198066339C>T	NCBI36
NG_008915.1:g.11905G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388968.8:c.823G>A MANE Select	ENSP00000373620.3:p.Ala275Thr
ENST00000418022.2:c.823G>A	ENSP00000412227.2:p.Ala275Thr
ENST00000426480.2:c.823G>A	ENSP00000414446.2:p.Ala275Thr
ENST00000428204.6:c.823G>A	ENSP00000396460.2:p.Ala275Thr
ENST00000439605.2:c.823G>A	ENSP00000402478.2:p.Ala275Thr
ENST00000440114.2:c.*629G>A	ENSP00000390404.1:n.*629G>A
ENST00000452200.6:c.823G>A	ENSP00000412717.2:p.Ala275Thr
ENST00000461097.2:n.3571G>A
ENST00000476746.6:n.1871G>A
ENST00000676933.1:c.727G>A	ENSP00000503144.1:p.Ala243Thr
ENST00000677403.1:c.823G>A	ENSP00000504667.1:p.Ala275Thr
ENST00000677454.1:c.823G>A	ENSP00000503295.1:p.Ala275Thr
ENST00000677792.1:c.823G>A	ENSP00000504645.1:p.Ala275Thr
ENST00000677913.1:c.823G>A	ENSP00000503139.1:p.Ala275Thr
ENST00000678170.1:c.550G>A	ENSP00000503910.1:p.Ala184Thr
ENST00000678545.1:c.823G>A	ENSP00000502920.1:p.Ala275Thr
ENST00000678621.1:c.823G>A	ENSP00000504328.1:p.Ala275Thr
ENST00000678761.1:c.823G>A	ENSP00000503894.1:p.Ala275Thr
ENST00000678969.1:n.1464G>A
ENST00000679291.1:c.823G>A	ENSP00000504417.1:p.Ala275Thr
ENST00000345042.6:c.823G>A	ENSP00000340019.2:p.Ala275Thr
ENST00000388968.7:c.823G>A	ENSP00000373620.3:p.Ala275Thr
ENST00000482167.1:n.441G>A
NM_002156.4:c.823G>A	NP_002147.2:p.Ala275Thr
NM_199440.1:c.823G>A	NP_955472.1:p.Ala275Thr
XM_005246518.2:c.823G>A	XP_005246575.1:p.Ala275Thr
NM_002156.5:c.823G>A MANE Select	NP_002147.2:p.Ala275Thr
NM_199440.2:c.823G>A	NP_955472.1:p.Ala275Thr