Canonical Allele Identifier: CA2340287325
Community Standard Title: NM_017636.4(TRPM4):c.2531G= (p.Gly844=)
Gene: TRPM4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49196760G= , CM000681.2:g.49196760G= GRCh38
NC_000019.9:g.49700017G= , CM000681.1:g.49700017G= GRCh37
NC_000019.8:g.54391829G= NCBI36
NG_027551.1:g.44002G=
NG_027551.2:g.44002G=

Transcript Alleles

HGVS Amino-acid Change
NM_017636.4:c.2531G= MANE Select NP_060106.2:p.Gly844=
ENST00000252826.10:c.2531G= MANE Select ENSP00000252826.4:p.Gly844=
NM_001195227.1:c.2211-3540G= NP_001182156.1:n.2211-3540G=
NM_001195227.2:c.2211-3540G= NP_001182156.1:n.2211-3540G=
NM_001321281.1:c.2186G= NP_001308210.1:p.Gly729=
NM_001321281.2:c.2186G= NP_001308210.1:p.Gly729=
NM_001321282.1:c.923G= NP_001308211.1:p.Gly308=
NM_001321282.2:c.923G= NP_001308211.1:p.Gly308=
NM_001321283.1:c.2009G= NP_001308212.1:p.Gly670=
NM_001321283.2:c.2009G= NP_001308212.1:p.Gly670=
NM_001321285.1:c.1469G= NP_001308214.1:p.Gly490=
NM_001321285.2:c.1469G= NP_001308214.1:p.Gly490=
NM_017636.3:c.2531G= NP_060106.2:p.Gly844=
ENST00000252826.9:c.2531G= ENSP00000252826.4:p.Gly844=
ENST00000427978.6:c.2211-3540G= ENSP00000407492.1:n.2211-3540G=
ENST00000595071.5:n.1495G=
ENST00000595519.5:c.*1941G= ENSP00000469893.1:n.*1941G=
ENST00000596338.5:n.2628G=
ENST00000598502.5:c.*1644G= ENSP00000470229.1:n.*1644G=
ENST00000598697.5:c.*1486G= ENSP00000468989.1:n.*1486G=
XM_005259017.1:c.1244G= XP_005259074.1:p.Gly415=
XM_005259018.2:c.923G= XP_005259075.1:p.Gly308=
XM_011527046.1:c.2009G= XP_011525348.1:p.Gly670=
XM_024451557.1:c.557G= XP_024307325.1:p.Gly186=