Canonical Allele Identifier: CA9569565
Gene: TRPM4 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000252826.10:c.2531G>T MANE Select ENSP00000252826.4:p.Gly844Val
ENST00000252826.9:c.2531G>T ENSP00000252826.4:p.Gly844Val
ENST00000427978.6:c.2211-3540G>T ENSP00000407492.1:n.2211-3540G>T
ENST00000595071.5:n.1495G>T
ENST00000595519.5:c.*1941G>T ENSP00000469893.1:n.*1941G>T
ENST00000596338.5:n.2628G>T
ENST00000598502.5:c.*1644G>T ENSP00000470229.1:n.*1644G>T
ENST00000598697.5:c.*1486G>T ENSP00000468989.1:n.*1486G>T
NM_001195227.1:c.2211-3540G>T NP_001182156.1:n.2211-3540G>T
NM_017636.3:c.2531G>T NP_060106.2:p.Gly844Val
XM_005259017.1:c.1244G>T XP_005259074.1:p.Gly415Val
XM_005259018.2:c.923G>T XP_005259075.1:p.Gly308Val
XM_011527046.1:c.2009G>T XP_011525348.1:p.Gly670Val
NM_001321281.1:c.2186G>T NP_001308210.1:p.Gly729Val
NM_001321282.1:c.923G>T NP_001308211.1:p.Gly308Val
NM_001321283.1:c.2009G>T NP_001308212.1:p.Gly670Val
NM_001321285.1:c.1469G>T NP_001308214.1:p.Gly490Val
XM_024451557.1:c.557G>T XP_024307325.1:p.Gly186Val
NM_017636.4:c.2531G>T MANE Select NP_060106.2:p.Gly844Val
NM_001195227.2:c.2211-3540G>T NP_001182156.1:n.2211-3540G>T
NM_001321281.2:c.2186G>T NP_001308210.1:p.Gly729Val
NM_001321282.2:c.923G>T NP_001308211.1:p.Gly308Val
NM_001321283.2:c.2009G>T NP_001308212.1:p.Gly670Val
NM_001321285.2:c.1469G>T NP_001308214.1:p.Gly490Val