Canonical Allele Identifier: CA2340280804
Community Standard Title: NM_017636.4(TRPM4):c.1575G= (p.Trp525=)
Gene: TRPM4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49182889G= , CM000681.2:g.49182889G= GRCh38
NC_000019.9:g.49686146G= , CM000681.1:g.49686146G= GRCh37
NC_000019.8:g.54377958G= NCBI36
NG_027551.1:g.30131G=
NG_027551.2:g.30131G=

Transcript Alleles

HGVS Amino-acid Change
NM_017636.4:c.1575G= MANE Select NP_060106.2:p.Trp525=
ENST00000252826.10:c.1575G= MANE Select ENSP00000252826.4:p.Trp525=
NM_001195227.1:c.1575G= NP_001182156.1:p.Trp525=
NM_001195227.2:c.1575G= NP_001182156.1:p.Trp525=
NM_001321281.1:c.1230G= NP_001308210.1:p.Trp410=
NM_001321281.2:c.1230G= NP_001308210.1:p.Trp410=
NM_001321282.1:c.-1+22G= NP_001308211.1:n.-1+22G=
NM_001321282.2:c.-1+22G= NP_001308211.1:n.-1+22G=
NM_001321283.1:c.1053G= NP_001308212.1:p.Trp351=
NM_001321283.2:c.1053G= NP_001308212.1:p.Trp351=
NM_001321285.1:c.513G= NP_001308214.1:p.Trp171=
NM_001321285.2:c.513G= NP_001308214.1:p.Trp171=
NM_017636.3:c.1575G= NP_060106.2:p.Trp525=
ENST00000252826.9:c.1575G= ENSP00000252826.4:p.Trp525=
ENST00000427978.6:c.1575G= ENSP00000407492.1:p.Trp525=
ENST00000595071.5:n.364G=
ENST00000595519.5:c.*985G= ENSP00000469893.1:n.*985G=
ENST00000596338.5:n.1497G=
ENST00000598502.5:c.*721+22G= ENSP00000470229.1:n.*721+22G=
ENST00000598697.5:c.*530G= ENSP00000468989.1:n.*530G=
XM_005259017.1:c.288G= XP_005259074.1:p.Trp96=
XM_005259018.2:c.-1+22G= XP_005259075.1:n.-1+22G=
XM_011527046.1:c.1053G= XP_011525348.1:p.Trp351=
XM_024451557.1:c.-542+22G= XP_024307325.1:n.-542+22G=