Canonical Allele Identifier: CA2866836
Gene: PROM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 391392
dbSNP Id: rs140682455
gnomAD v2: 4-16010674-A-G
gnomAD v3: 4-16009051-A-G
gnomAD v4: 4-16009051-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.16009051A>G , CM000666.2:g.16009051A>G GRCh38
NC_000004.11:g.16010674A>G , CM000666.1:g.16010674A>G GRCh37
NC_000004.10:g.15619772A>G NCBI36
NG_011696.1:g.79950T>C
NG_011696.2:g.80009T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000447510.7:c.1199T>C MANE Select ENSP00000415481.2:p.Leu400Pro
ENST00000513946.2:c.*882T>C ENSP00000424738.2:n.*882T>C
ENST00000539194.6:c.1199T>C ENSP00000443620.1:p.Leu400Pro
ENST00000540805.6:c.1172T>C ENSP00000438045.2:p.Leu391Pro
ENST00000675377.1:c.1199T>C ENSP00000502545.1:p.Leu400Pro
ENST00000675613.1:c.1172T>C ENSP00000501741.1:p.Leu391Pro
ENST00000447510.6:c.1199T>C ENSP00000415481.2:p.Leu400Pro
ENST00000505450.5:c.1172T>C ENSP00000426090.1:p.Leu391Pro
ENST00000508167.5:c.1172T>C ENSP00000427346.1:p.Leu391Pro
ENST00000510224.5:c.1199T>C ENSP00000426809.1:p.Leu400Pro
ENST00000511153.5:c.1257T>C
ENST00000539194.5:c.1199T>C ENSP00000443620.1:p.Leu400Pro
ENST00000540805.5:c.1199T>C ENSP00000438045.1:p.Leu400Pro
NM_001145847.1:c.1172T>C NP_001139319.1:p.Leu391Pro
NM_001145848.1:c.1172T>C NP_001139320.1:p.Leu391Pro
NM_001145849.1:c.1199T>C NP_001139321.1:p.Leu400Pro
NM_001145850.1:c.1199T>C NP_001139322.1:p.Leu400Pro
NM_001145851.1:c.1172T>C NP_001139323.1:p.Leu391Pro
NM_001145852.1:c.1172T>C NP_001139324.1:p.Leu391Pro
NM_006017.2:c.1199T>C NP_006008.1:p.Leu400Pro
XM_005248195.3:c.1172T>C XP_005248252.1:p.Leu391Pro
XM_005248196.3:c.1172T>C XP_005248253.1:p.Leu391Pro
XM_006713974.2:c.965T>C XP_006714037.1:p.Leu322Pro
XM_011513890.1:c.1199T>C XP_011512192.1:p.Leu400Pro
XM_011513891.1:c.1199T>C XP_011512193.1:p.Leu400Pro
XM_011513892.1:c.1199T>C XP_011512194.1:p.Leu400Pro
XM_011513893.1:c.1199T>C XP_011512195.1:p.Leu400Pro
XM_011513894.1:c.1199T>C XP_011512196.1:p.Leu400Pro
XM_011513895.1:c.1199T>C XP_011512197.1:p.Leu400Pro
XM_011513896.1:c.1199T>C XP_011512198.1:p.Leu400Pro
XM_011513897.1:c.1199T>C XP_011512199.1:p.Leu400Pro
XM_011513898.1:c.1199T>C XP_011512200.1:p.Leu400Pro
XM_011513899.1:c.1172T>C XP_011512201.1:p.Leu391Pro
XM_011513900.1:c.1199T>C XP_011512202.1:p.Leu400Pro
XM_011513901.1:c.1199T>C XP_011512203.1:p.Leu400Pro
XM_011513902.1:c.1199T>C XP_011512204.1:p.Leu400Pro
XM_011513903.1:c.992T>C XP_011512205.1:p.Leu331Pro
XM_011513904.1:c.926T>C XP_011512206.1:p.Leu309Pro
XM_005248195.5:c.1172T>C XP_005248252.1:p.Leu391Pro
XM_005248196.5:c.1172T>C XP_005248253.1:p.Leu391Pro
XM_006713974.3:c.965T>C XP_006714037.1:p.Leu322Pro
XM_011513892.2:c.1199T>C XP_011512194.1:p.Leu400Pro
XM_011513893.2:c.1199T>C XP_011512195.1:p.Leu400Pro
XM_011513894.3:c.1199T>C XP_011512196.1:p.Leu400Pro
XM_011513895.2:c.1199T>C XP_011512197.1:p.Leu400Pro
XM_011513896.2:c.1199T>C XP_011512198.1:p.Leu400Pro
XM_011513897.3:c.1199T>C XP_011512199.1:p.Leu400Pro
XM_011513900.2:c.1199T>C XP_011512202.1:p.Leu400Pro
XM_011513902.2:c.1199T>C XP_011512204.1:p.Leu400Pro
XM_011513903.2:c.992T>C XP_011512205.1:p.Leu331Pro
XM_017008799.1:c.1172T>C XP_016864288.1:p.Leu391Pro
XM_017008800.1:c.1199T>C XP_016864289.1:p.Leu400Pro
XM_017008802.1:c.1199T>C XP_016864291.1:p.Leu400Pro
XM_017008803.1:c.1172T>C XP_016864292.1:p.Leu391Pro
XM_017008804.1:c.1172T>C XP_016864293.1:p.Leu391Pro
XM_017008805.1:c.1172T>C XP_016864294.1:p.Leu391Pro
XM_024454276.1:c.926T>C XP_024310044.1:p.Leu309Pro
NM_001145847.2:c.1172T>C NP_001139319.1:p.Leu391Pro
NM_001145848.2:c.1172T>C NP_001139320.1:p.Leu391Pro
NM_001145849.2:c.1199T>C NP_001139321.1:p.Leu400Pro
NM_001145850.2:c.1199T>C NP_001139322.1:p.Leu400Pro
NM_001145851.2:c.1172T>C NP_001139323.1:p.Leu391Pro
NM_001145852.2:c.1172T>C NP_001139324.1:p.Leu391Pro
NM_001371406.1:c.1172T>C NP_001358335.1:p.Leu391Pro
NM_001371407.1:c.1172T>C NP_001358336.1:p.Leu391Pro
NM_001371408.1:c.1172T>C NP_001358337.1:p.Leu391Pro
NM_006017.3:c.1199T>C MANE Select NP_006008.1:p.Leu400Pro