Canonical Allele Identifier: CA350198318
Community Standard Title: NM_002156.5(HSPD1):c.1510G>A (p.Asp504Asn)
Gene: HSPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.197487917C>T , CM000664.2:g.197487917C>T GRCh38
NC_000002.11:g.198352641C>T , CM000664.1:g.198352641C>T GRCh37
NC_000002.10:g.198060886C>T NCBI36
NG_008915.1:g.17358G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002156.5:c.1510G>A MANE Select NP_002147.2:p.Asp504Asn
ENST00000388968.8:c.1510G>A MANE Select ENSP00000373620.3:p.Asp504Asn
NM_002156.4:c.1510G>A NP_002147.2:p.Asp504Asn
NM_199440.1:c.1510G>A NP_955472.1:p.Asp504Asn
NM_199440.2:c.1510G>A NP_955472.1:p.Asp504Asn
ENST00000345042.6:c.1510G>A ENSP00000340019.2:p.Asp504Asn
ENST00000388968.7:c.1510G>A ENSP00000373620.3:p.Asp504Asn
ENST00000418022.2:c.1510G>A ENSP00000412227.2:p.Asp504Asn
ENST00000426480.2:c.1510G>A ENSP00000414446.2:p.Asp504Asn
ENST00000428204.6:c.1510G>A ENSP00000396460.2:p.Asp504Asn
ENST00000439605.2:c.1510G>A ENSP00000402478.2:p.Asp504Asn
ENST00000440114.2:c.*1316G>A ENSP00000390404.1:n.*1316G>A
ENST00000452200.6:c.1510G>A ENSP00000412717.2:p.Asp504Asn
ENST00000461097.2:n.4258G>A
ENST00000476746.6:n.2558G>A
ENST00000676933.1:c.1414G>A ENSP00000503144.1:p.Asp472Asn
ENST00000677403.1:c.*506G>A ENSP00000504667.1:n.*506G>A
ENST00000677454.1:c.1648G>A ENSP00000503295.1:n.1648G>A
ENST00000677792.1:c.*519G>A ENSP00000504645.1:n.*519G>A
ENST00000677913.1:c.1510G>A ENSP00000503139.1:p.Asp504Asn
ENST00000678170.1:c.1237G>A ENSP00000503910.1:p.Asp413Asn
ENST00000678545.1:c.*820G>A ENSP00000502920.1:n.*820G>A
ENST00000678621.1:c.1510G>A ENSP00000504328.1:p.Asp504Asn
ENST00000678761.1:c.1510G>A ENSP00000503894.1:p.Asp504Asn
ENST00000678969.1:n.3100G>A
ENST00000679291.1:c.*519G>A ENSP00000504417.1:n.*519G>A
XM_005246518.2:c.1510G>A XP_005246575.1:p.Asp504Asn