Canonical Allele Identifier: CA350198619

Gene: HSPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197488326G>C , CM000664.2:g.197488326G>C	GRCh38
NC_000002.11:g.198353050G>C , CM000664.1:g.198353050G>C	GRCh37
NC_000002.10:g.198061295G>C	NCBI36
NG_008915.1:g.16949C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002156.5:c.1381C>G MANE Select	NP_002147.2:p.Gln461Glu
ENST00000388968.8:c.1381C>G MANE Select	ENSP00000373620.3:p.Gln461Glu
NM_002156.4:c.1381C>G	NP_002147.2:p.Gln461Glu
NM_199440.1:c.1381C>G	NP_955472.1:p.Gln461Glu
NM_199440.2:c.1381C>G	NP_955472.1:p.Gln461Glu
ENST00000345042.6:c.1381C>G	ENSP00000340019.2:p.Gln461Glu
ENST00000388968.7:c.1381C>G	ENSP00000373620.3:p.Gln461Glu
ENST00000418022.2:c.1381C>G	ENSP00000412227.2:p.Gln461Glu
ENST00000426480.2:c.1381C>G	ENSP00000414446.2:p.Gln461Glu
ENST00000428204.6:c.1381C>G	ENSP00000396460.2:p.Gln461Glu
ENST00000439605.2:c.1381C>G	ENSP00000402478.2:p.Gln461Glu
ENST00000440114.2:c.*1187C>G	ENSP00000390404.1:n.*1187C>G
ENST00000452200.6:c.1381C>G	ENSP00000412717.2:p.Gln461Glu
ENST00000461097.2:n.4129C>G
ENST00000476746.6:n.2429C>G
ENST00000491249.1:n.788C>G
ENST00000676933.1:c.1285C>G	ENSP00000503144.1:p.Gln429Glu
ENST00000677403.1:c.*377C>G	ENSP00000504667.1:n.*377C>G
ENST00000677454.1:c.1519C>G	ENSP00000503295.1:n.1519C>G
ENST00000677792.1:c.*390C>G	ENSP00000504645.1:n.*390C>G
ENST00000677913.1:c.1381C>G	ENSP00000503139.1:p.Gln461Glu
ENST00000678170.1:c.1108C>G	ENSP00000503910.1:p.Gln370Glu
ENST00000678545.1:c.*691C>G	ENSP00000502920.1:n.*691C>G
ENST00000678621.1:c.1381C>G	ENSP00000504328.1:p.Gln461Glu
ENST00000678761.1:c.1381C>G	ENSP00000503894.1:p.Gln461Glu
ENST00000678969.1:n.2971C>G
ENST00000679291.1:c.*390C>G	ENSP00000504417.1:n.*390C>G
XM_005246518.2:c.1381C>G	XP_005246575.1:p.Gln461Glu