Canonical Allele Identifier: CA762964209

Gene: HSPD1

Linked Data

• dbSNP Id: rs1249492507
• gnomAD v3: 2-197487546-C-A
• gnomAD v4: 2-197487546-C-A
• MyVariant Identifiers: chr2:g.198352270C>A (hg19) ; chr2:g.197487546C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197487546C>A , CM000664.2:g.197487546C>A	GRCh38
NC_000002.11:g.198352270C>A , CM000664.1:g.198352270C>A	GRCh37
NC_000002.10:g.198060515C>A	NCBI36
NG_008915.1:g.17729G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000388968.8:c.1569+312G>T MANE Select	ENSP00000373620.3:n.1569+312G>T
ENST00000418022.2:c.1569+312G>T	ENSP00000412227.2:n.1569+312G>T
ENST00000426480.2:c.1569+312G>T	ENSP00000414446.2:n.1569+312G>T
ENST00000428204.6:c.1569+312G>T	ENSP00000396460.2:n.1569+312G>T
ENST00000439605.2:c.1569+312G>T	ENSP00000402478.2:n.1569+312G>T
ENST00000440114.2:c.*1375+312G>T	ENSP00000390404.1:n.*1375+312G>T
ENST00000452200.6:c.1569+312G>T	ENSP00000412717.2:n.1569+312G>T
ENST00000461097.2:n.4317+312G>T
ENST00000476746.6:n.2617+312G>T
ENST00000676933.1:c.1473+312G>T	ENSP00000503144.1:n.1473+312G>T
ENST00000677403.1:c.*565+312G>T	ENSP00000504667.1:n.*565+312G>T
ENST00000677454.1:c.1707+312G>T	ENSP00000503295.1:n.1707+312G>T
ENST00000677792.1:c.*578+312G>T	ENSP00000504645.1:n.*578+312G>T
ENST00000677913.1:c.1569+312G>T	ENSP00000503139.1:n.1569+312G>T
ENST00000678170.1:c.1296+312G>T	ENSP00000503910.1:n.1296+312G>T
ENST00000678545.1:c.*879+312G>T	ENSP00000502920.1:n.*879+312G>T
ENST00000678621.1:c.1570-167G>T	ENSP00000504328.1:n.1570-167G>T
ENST00000678761.1:c.1569+312G>T	ENSP00000503894.1:n.1569+312G>T
ENST00000678969.1:n.3159+312G>T
ENST00000679291.1:c.*578+312G>T	ENSP00000504417.1:n.*578+312G>T
ENST00000345042.6:c.1569+312G>T	ENSP00000340019.2:n.1569+312G>T
ENST00000388968.7:c.1569+312G>T	ENSP00000373620.3:n.1569+312G>T
NM_002156.4:c.1569+312G>T	NP_002147.2:n.1569+312G>T
NM_199440.1:c.1569+312G>T	NP_955472.1:n.1569+312G>T
XM_005246518.2:c.1569+312G>T	XP_005246575.1:n.1569+312G>T
NM_002156.5:c.1569+312G>T MANE Select	NP_002147.2:n.1569+312G>T
NM_199440.2:c.1569+312G>T	NP_955472.1:n.1569+312G>T