Canonical Allele Identifier: CA430559496
Community Standard Title: NM_002156.5(HSPD1):c.1029A>G (p.Gly343=)
Gene: HSPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.197489188T>C , CM000664.2:g.197489188T>C GRCh38
NC_000002.11:g.198353912T>C , CM000664.1:g.198353912T>C GRCh37
NC_000002.10:g.198062157T>C NCBI36
NG_008915.1:g.16087A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002156.5:c.1029A>G MANE Select NP_002147.2:p.Gly343=
ENST00000388968.8:c.1029A>G MANE Select ENSP00000373620.3:p.Gly343=
NM_002156.4:c.1029A>G NP_002147.2:p.Gly343=
NM_199440.1:c.1029A>G NP_955472.1:p.Gly343=
NM_199440.2:c.1029A>G NP_955472.1:p.Gly343=
ENST00000345042.6:c.1029A>G ENSP00000340019.2:p.Gly343=
ENST00000388968.7:c.1029A>G ENSP00000373620.3:p.Gly343=
ENST00000418022.2:c.1029A>G ENSP00000412227.2:p.Gly343=
ENST00000426480.2:c.1029A>G ENSP00000414446.2:p.Gly343=
ENST00000428204.6:c.1029A>G ENSP00000396460.2:p.Gly343=
ENST00000439605.2:c.1029A>G ENSP00000402478.2:p.Gly343=
ENST00000440114.2:c.*835A>G ENSP00000390404.1:n.*835A>G
ENST00000452200.6:c.1029A>G ENSP00000412717.2:p.Gly343=
ENST00000461097.2:n.3777A>G
ENST00000476746.6:n.2077A>G
ENST00000491249.1:n.436A>G
ENST00000676933.1:c.933A>G ENSP00000503144.1:p.Gly311=
ENST00000677403.1:c.*25A>G ENSP00000504667.1:n.*25A>G
ENST00000677454.1:c.1167A>G ENSP00000503295.1:n.1167A>G
ENST00000677792.1:c.*38A>G ENSP00000504645.1:n.*38A>G
ENST00000677913.1:c.1029A>G ENSP00000503139.1:p.Gly343=
ENST00000678170.1:c.756A>G ENSP00000503910.1:p.Gly252=
ENST00000678545.1:c.*339A>G ENSP00000502920.1:n.*339A>G
ENST00000678621.1:c.1029A>G ENSP00000504328.1:p.Gly343=
ENST00000678761.1:c.1029A>G ENSP00000503894.1:p.Gly343=
ENST00000678969.1:n.2619A>G
ENST00000679291.1:c.*38A>G ENSP00000504417.1:n.*38A>G
XM_005246518.2:c.1029A>G XP_005246575.1:p.Gly343=