Canonical Allele Identifier: CA2340273551
Community Standard Title: NM_017636.4(TRPM4):c.490C= (p.Arg164=)
Gene: TRPM4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49168301C= , CM000681.2:g.49168301C= GRCh38
NC_000019.9:g.49671558C= , CM000681.1:g.49671558C= GRCh37
NC_000019.8:g.54363370C= NCBI36
NG_027551.1:g.15543C=
NG_027551.2:g.15543C=

Transcript Alleles

HGVS Amino-acid Change
NM_017636.4:c.490C= MANE Select NP_060106.2:p.Arg164=
ENST00000252826.10:c.490C= MANE Select ENSP00000252826.4:p.Arg164=
NM_001195227.1:c.490C= NP_001182156.1:p.Arg164=
NM_001195227.2:c.490C= NP_001182156.1:p.Arg164=
NM_001321281.1:c.268-252C= NP_001308210.1:n.268-252C=
NM_001321281.2:c.268-252C= NP_001308210.1:n.268-252C=
NM_001321282.1:c.-1064C= NP_001308211.1:n.-1064C=
NM_001321282.2:c.-1064C= NP_001308211.1:n.-1064C=
NM_001321283.1:c.-33C= NP_001308212.1:n.-33C=
NM_001321283.2:c.-33C= NP_001308212.1:n.-33C=
NM_001321285.1:c.-237-252C= NP_001308214.1:n.-237-252C=
NM_001321285.2:c.-237-252C= NP_001308214.1:n.-237-252C=
NM_017636.3:c.490C= NP_060106.2:p.Arg164=
ENST00000252826.9:c.490C= ENSP00000252826.4:p.Arg164=
ENST00000427978.6:c.490C= ENSP00000407492.1:p.Arg164=
ENST00000594568.1:n.496C=
ENST00000595519.5:c.134C= ENSP00000469893.1:p.Pro45=
ENST00000596338.5:n.525C=
ENST00000598502.5:c.309C= ENSP00000470229.1:p.Ala103=
ENST00000598691.5:c.268-252C= ENSP00000473231.1:n.268-252C=
ENST00000598697.5:c.93-252C= ENSP00000468989.1:n.93-252C=
XM_011527046.1:c.-33C= XP_011525348.1:n.-33C=