Canonical Allele Identifier: CA291194
Community Standard Title: NM_002156.5(HSPD1):c.1216-9C>T
Gene: HSPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.197488500G>A , CM000664.2:g.197488500G>A GRCh38
NC_000002.11:g.198353224G>A , CM000664.1:g.198353224G>A GRCh37
NC_000002.10:g.198061469G>A NCBI36
NG_008915.1:g.16775C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002156.5:c.1216-9C>T MANE Select NP_002147.2:n.1216-9C>T
ENST00000388968.8:c.1216-9C>T MANE Select ENSP00000373620.3:n.1216-9C>T
NM_002156.4:c.1216-9C>T NP_002147.2:n.1216-9C>T
NM_199440.1:c.1216-9C>T NP_955472.1:n.1216-9C>T
NM_199440.2:c.1216-9C>T NP_955472.1:n.1216-9C>T
ENST00000345042.6:c.1216-9C>T ENSP00000340019.2:n.1216-9C>T
ENST00000388968.7:c.1216-9C>T ENSP00000373620.3:n.1216-9C>T
ENST00000418022.2:c.1216-9C>T ENSP00000412227.2:n.1216-9C>T
ENST00000426480.2:c.1216-9C>T ENSP00000414446.2:n.1216-9C>T
ENST00000428204.6:c.1216-9C>T ENSP00000396460.2:n.1216-9C>T
ENST00000439605.2:c.1216-9C>T ENSP00000402478.2:n.1216-9C>T
ENST00000440114.2:c.*1022-9C>T ENSP00000390404.1:n.*1022-9C>T
ENST00000452200.6:c.1216-9C>T ENSP00000412717.2:n.1216-9C>T
ENST00000461097.2:n.3964-9C>T
ENST00000476746.6:n.2264-9C>T
ENST00000491249.1:n.623-9C>T
ENST00000676933.1:c.1120-9C>T ENSP00000503144.1:n.1120-9C>T
ENST00000677403.1:c.*212-9C>T ENSP00000504667.1:n.*212-9C>T
ENST00000677454.1:c.1354-9C>T ENSP00000503295.1:n.1354-9C>T
ENST00000677792.1:c.*225-9C>T ENSP00000504645.1:n.*225-9C>T
ENST00000677913.1:c.1216-9C>T ENSP00000503139.1:n.1216-9C>T
ENST00000678170.1:c.943-9C>T ENSP00000503910.1:n.943-9C>T
ENST00000678545.1:c.*526-9C>T ENSP00000502920.1:n.*526-9C>T
ENST00000678621.1:c.1216-9C>T ENSP00000504328.1:n.1216-9C>T
ENST00000678761.1:c.1216-9C>T ENSP00000503894.1:n.1216-9C>T
ENST00000678969.1:n.2806-9C>T
ENST00000679291.1:c.*225-9C>T ENSP00000504417.1:n.*225-9C>T
XM_005246518.2:c.1216-9C>T XP_005246575.1:n.1216-9C>T