Canonical Allele Identifier: CA356433468
Community Standard Title: NM_006017.3(PROM1):c.1462G>T (p.Gly488Ter)
Gene: PROM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.16000612C>A , CM000666.2:g.16000612C>A GRCh38
NC_000004.11:g.16002235C>A , CM000666.1:g.16002235C>A GRCh37
NC_000004.10:g.15611333C>A NCBI36
NG_011696.1:g.88389G>T
NG_011696.2:g.88448G>T

Transcript Alleles

HGVS Amino-acid Change
NM_006017.3:c.1462G>T MANE Select NP_006008.1:p.Gly488Ter
ENST00000447510.7:c.1462G>T MANE Select ENSP00000415481.2:p.Gly488Ter
NM_001145847.1:c.1435G>T NP_001139319.1:p.Gly479Ter
NM_001145847.2:c.1435G>T NP_001139319.1:p.Gly479Ter
NM_001145848.1:c.1435G>T NP_001139320.1:p.Gly479Ter
NM_001145848.2:c.1435G>T NP_001139320.1:p.Gly479Ter
NM_001145849.1:c.1462G>T NP_001139321.1:p.Gly488Ter
NM_001145849.2:c.1462G>T NP_001139321.1:p.Gly488Ter
NM_001145850.1:c.1462G>T NP_001139322.1:p.Gly488Ter
NM_001145850.2:c.1462G>T NP_001139322.1:p.Gly488Ter
NM_001145851.1:c.1435G>T NP_001139323.1:p.Gly479Ter
NM_001145851.2:c.1435G>T NP_001139323.1:p.Gly479Ter
NM_001145852.1:c.1435G>T NP_001139324.1:p.Gly479Ter
NM_001145852.2:c.1435G>T NP_001139324.1:p.Gly479Ter
NM_001371406.1:c.1435G>T NP_001358335.1:p.Gly479Ter
NM_001371407.1:c.1435G>T NP_001358336.1:p.Gly479Ter
NM_001371408.1:c.1435G>T NP_001358337.1:p.Gly479Ter
NM_006017.2:c.1462G>T NP_006008.1:p.Gly488Ter
ENST00000447510.6:c.1462G>T ENSP00000415481.2:p.Gly488Ter
ENST00000505450.5:c.1435G>T ENSP00000426090.1:p.Gly479Ter
ENST00000508167.5:c.1435G>T ENSP00000427346.1:p.Gly479Ter
ENST00000510224.5:c.1462G>T ENSP00000426809.1:p.Gly488Ter
ENST00000513946.2:c.*1145G>T ENSP00000424738.2:n.*1145G>T
ENST00000539194.5:c.1462G>T ENSP00000443620.1:p.Gly488Ter
ENST00000539194.6:c.1462G>T ENSP00000443620.1:p.Gly488Ter
ENST00000540805.5:c.1462G>T ENSP00000438045.1:p.Gly488Ter
ENST00000540805.6:c.1435G>T ENSP00000438045.2:p.Gly479Ter
ENST00000675377.1:c.1462G>T ENSP00000502545.1:p.Gly488Ter
ENST00000675613.1:c.1435G>T ENSP00000501741.1:p.Gly479Ter
XM_005248195.3:c.1435G>T XP_005248252.1:p.Gly479Ter
XM_005248195.5:c.1435G>T XP_005248252.1:p.Gly479Ter
XM_005248196.3:c.1435G>T XP_005248253.1:p.Gly479Ter
XM_005248196.5:c.1435G>T XP_005248253.1:p.Gly479Ter
XM_006713974.2:c.1228G>T XP_006714037.1:p.Gly410Ter
XM_006713974.3:c.1228G>T XP_006714037.1:p.Gly410Ter
XM_011513890.1:c.1462G>T XP_011512192.1:p.Gly488Ter
XM_011513891.1:c.1462G>T XP_011512193.1:p.Gly488Ter
XM_011513892.1:c.1462G>T XP_011512194.1:p.Gly488Ter
XM_011513892.2:c.1462G>T XP_011512194.1:p.Gly488Ter
XM_011513893.1:c.1462G>T XP_011512195.1:p.Gly488Ter
XM_011513893.2:c.1462G>T XP_011512195.1:p.Gly488Ter
XM_011513894.1:c.1462G>T XP_011512196.1:p.Gly488Ter
XM_011513894.3:c.1462G>T XP_011512196.1:p.Gly488Ter
XM_011513895.1:c.1462G>T XP_011512197.1:p.Gly488Ter
XM_011513895.2:c.1462G>T XP_011512197.1:p.Gly488Ter
XM_011513896.1:c.1462G>T XP_011512198.1:p.Gly488Ter
XM_011513896.2:c.1462G>T XP_011512198.1:p.Gly488Ter
XM_011513897.1:c.1462G>T XP_011512199.1:p.Gly488Ter
XM_011513897.3:c.1462G>T XP_011512199.1:p.Gly488Ter
XM_011513898.1:c.1462G>T XP_011512200.1:p.Gly488Ter
XM_011513899.1:c.1435G>T XP_011512201.1:p.Gly479Ter
XM_011513900.1:c.1462G>T XP_011512202.1:p.Gly488Ter
XM_011513900.2:c.1462G>T XP_011512202.1:p.Gly488Ter
XM_011513901.1:c.1462G>T XP_011512203.1:p.Gly488Ter
XM_011513902.1:c.1462G>T XP_011512204.1:p.Gly488Ter
XM_011513902.2:c.1462G>T XP_011512204.1:p.Gly488Ter
XM_011513903.1:c.1255G>T XP_011512205.1:p.Gly419Ter
XM_011513903.2:c.1255G>T XP_011512205.1:p.Gly419Ter
XM_011513904.1:c.1189G>T XP_011512206.1:p.Gly397Ter
XM_017008799.1:c.1435G>T XP_016864288.1:p.Gly479Ter
XM_017008800.1:c.1462G>T XP_016864289.1:p.Gly488Ter
XM_017008802.1:c.1462G>T XP_016864291.1:p.Gly488Ter
XM_017008803.1:c.1435G>T XP_016864292.1:p.Gly479Ter
XM_017008804.1:c.1435G>T XP_016864293.1:p.Gly479Ter
XM_017008805.1:c.1435G>T XP_016864294.1:p.Gly479Ter
XM_024454276.1:c.1189G>T XP_024310044.1:p.Gly397Ter