Canonical Allele Identifier: CA9569746

Gene: TRPM4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49202033C>T , CM000681.2:g.49202033C>T	GRCh38
NC_000019.9:g.49705290C>T , CM000681.1:g.49705290C>T	GRCh37
NC_000019.8:g.54397102C>T	NCBI36
NG_027551.1:g.49275C>T
NG_027551.2:g.49275C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252826.10:c.3023C>T MANE Select	ENSP00000252826.4:p.Ala1008Val
ENST00000252826.9:c.3023C>T	ENSP00000252826.4:p.Ala1008Val
ENST00000427978.6:c.2588C>T	ENSP00000407492.1:p.Ala863Val
ENST00000595071.5:n.1987C>T
ENST00000595519.5:c.*2433C>T	ENSP00000469893.1:n.*2433C>T
ENST00000596338.5:n.3120C>T
ENST00000598502.5:c.*2136C>T	ENSP00000470229.1:n.*2136C>T
ENST00000598697.5:c.*1978C>T	ENSP00000468989.1:n.*1978C>T
NM_001195227.1:c.2588C>T	NP_001182156.1:p.Ala863Val
NM_017636.3:c.3023C>T	NP_060106.2:p.Ala1008Val
XM_005259017.1:c.1736C>T	XP_005259074.1:p.Ala579Val
XM_005259018.2:c.1415C>T	XP_005259075.1:p.Ala472Val
XM_011527046.1:c.2501C>T	XP_011525348.1:p.Ala834Val
NM_001321281.1:c.2678C>T	NP_001308210.1:p.Ala893Val
NM_001321282.1:c.1415C>T	NP_001308211.1:p.Ala472Val
NM_001321283.1:c.2501C>T	NP_001308212.1:p.Ala834Val
NM_001321285.1:c.1961C>T	NP_001308214.1:p.Ala654Val
XM_024451557.1:c.1049C>T	XP_024307325.1:p.Ala350Val
NM_017636.4:c.3023C>T MANE Select	NP_060106.2:p.Ala1008Val
NM_001195227.2:c.2588C>T	NP_001182156.1:p.Ala863Val
NM_001321281.2:c.2678C>T	NP_001308210.1:p.Ala893Val
NM_001321282.2:c.1415C>T	NP_001308211.1:p.Ala472Val
NM_001321283.2:c.2501C>T	NP_001308212.1:p.Ala834Val
NM_001321285.2:c.1961C>T	NP_001308214.1:p.Ala654Val