Canonical Allele Identifier: CA406798935
Gene: TRPM4 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49182608G>T , CM000681.2:g.49182608G>T GRCh38
NC_000019.9:g.49685865G>T , CM000681.1:g.49685865G>T GRCh37
NC_000019.8:g.54377677G>T NCBI36
NG_027551.1:g.29850G>T
NG_027551.2:g.29850G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252826.10:c.1294G>T MANE Select ENSP00000252826.4:p.Ala432Ser
ENST00000252826.9:c.1294G>T ENSP00000252826.4:p.Ala432Ser
ENST00000427978.6:c.1294G>T ENSP00000407492.1:p.Ala432Ser
ENST00000595071.5:n.83G>T
ENST00000595519.5:c.*704G>T ENSP00000469893.1:n.*704G>T
ENST00000596338.5:n.1216G>T
ENST00000598502.5:c.*462G>T ENSP00000470229.1:n.*462G>T
ENST00000598697.5:c.*249G>T ENSP00000468989.1:n.*249G>T
ENST00000601347.1:n.495G>T
NM_001195227.1:c.1294G>T NP_001182156.1:p.Ala432Ser
NM_017636.3:c.1294G>T NP_060106.2:p.Ala432Ser
XM_005259017.1:c.7G>T XP_005259074.1:p.Ala3Ser
XM_011527046.1:c.772G>T XP_011525348.1:p.Ala258Ser
NM_001321281.1:c.949G>T NP_001308210.1:p.Ala317Ser
NM_001321282.1:c.-260G>T NP_001308211.1:n.-260G>T
NM_001321283.1:c.772G>T NP_001308212.1:p.Ala258Ser
NM_001321285.1:c.232G>T NP_001308214.1:p.Ala78Ser
XM_024451557.1:c.-801G>T XP_024307325.1:n.-801G>T
NM_017636.4:c.1294G>T MANE Select NP_060106.2:p.Ala432Ser
NM_001195227.2:c.1294G>T NP_001182156.1:p.Ala432Ser
NM_001321281.2:c.949G>T NP_001308210.1:p.Ala317Ser
NM_001321282.2:c.-260G>T NP_001308211.1:n.-260G>T
NM_001321283.2:c.772G>T NP_001308212.1:p.Ala258Ser
NM_001321285.2:c.232G>T NP_001308214.1:p.Ala78Ser