Canonical Allele Identifier: CA279046

Gene: HSPD1

Linked Data

• ClinVar Variation Id: 216941
• ClinVar RCV Id: RCV000200544 ; RCV002225501 ; RCV002517300
• dbSNP Id: rs863224878
• MyVariant Identifiers: chr2:g.198351885G>A (hg19) ; chr2:g.197487161G>A (hg38)
• PubMed: PMID:25326637

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197487161G>A , CM000664.2:g.197487161G>A	GRCh38
NC_000002.11:g.198351885G>A , CM000664.1:g.198351885G>A	GRCh37
NC_000002.10:g.198060130G>A	NCBI36
NG_008915.1:g.18114C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388968.8:c.1607C>T MANE Select	ENSP00000373620.3:p.Ala536Val
ENST00000418022.2:c.1607C>T	ENSP00000412227.2:p.Ala536Val
ENST00000426480.2:c.1607C>T	ENSP00000414446.2:p.Ala536Val
ENST00000428204.6:c.1607C>T	ENSP00000396460.2:p.Ala536Val
ENST00000439605.2:c.1607C>T	ENSP00000402478.2:p.Ala536Val
ENST00000440114.2:c.*1413C>T	ENSP00000390404.1:n.*1413C>T
ENST00000452200.6:c.1607C>T	ENSP00000412717.2:p.Ala536Val
ENST00000461097.2:n.4355C>T
ENST00000476746.6:n.2655C>T
ENST00000676933.1:c.1511C>T	ENSP00000503144.1:p.Ala504Val
ENST00000677403.1:c.*603C>T	ENSP00000504667.1:n.*603C>T
ENST00000677454.1:c.1745C>T	ENSP00000503295.1:n.1745C>T
ENST00000677792.1:c.*616C>T	ENSP00000504645.1:n.*616C>T
ENST00000677913.1:c.1607C>T	ENSP00000503139.1:p.Ala536Val
ENST00000678170.1:c.1334C>T	ENSP00000503910.1:p.Ala445Val
ENST00000678545.1:c.*917C>T	ENSP00000502920.1:n.*917C>T
ENST00000678621.1:c.*85C>T	ENSP00000504328.1:n.*85C>T
ENST00000678761.1:c.1607C>T	ENSP00000503894.1:p.Ala536Val
ENST00000678969.1:n.3197C>T
ENST00000679291.1:c.*616C>T	ENSP00000504417.1:n.*616C>T
ENST00000345042.6:c.1607C>T	ENSP00000340019.2:p.Ala536Val
ENST00000388968.7:c.1607C>T	ENSP00000373620.3:p.Ala536Val
NM_002156.4:c.1607C>T	NP_002147.2:p.Ala536Val
NM_199440.1:c.1607C>T	NP_955472.1:p.Ala536Val
XM_005246518.2:c.1607C>T	XP_005246575.1:p.Ala536Val
NM_002156.5:c.1607C>T MANE Select	NP_002147.2:p.Ala536Val
NM_199440.2:c.1607C>T	NP_955472.1:p.Ala536Val