Canonical Allele Identifier: CA9568910

Gene: TRPM4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49168629C>T , CM000681.2:g.49168629C>T	GRCh38
NC_000019.9:g.49671886C>T , CM000681.1:g.49671886C>T	GRCh37
NC_000019.8:g.54363698C>T	NCBI36
NG_027551.1:g.15871C>T
NG_027551.2:g.15871C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252826.10:c.689C>T MANE Select	ENSP00000252826.4:p.Ser230Leu
ENST00000252826.9:c.689C>T	ENSP00000252826.4:p.Ser230Leu
ENST00000427978.6:c.689C>T	ENSP00000407492.1:p.Ser230Leu
ENST00000595519.5:c.*99C>T	ENSP00000469893.1:n.*99C>T
ENST00000596338.5:n.724C>T
ENST00000598502.5:c.508C>T	ENSP00000470229.1:p.Arg170Trp
ENST00000598691.5:c.344C>T	ENSP00000473231.1:p.Ser115Leu
ENST00000598697.5:c.169C>T	ENSP00000468989.1:p.Arg57Trp
ENST00000601347.1:n.3C>T
NM_001195227.1:c.689C>T	NP_001182156.1:p.Ser230Leu
NM_017636.3:c.689C>T	NP_060106.2:p.Ser230Leu
XM_005259017.1:c.-486C>T	XP_005259074.1:n.-486C>T
XM_011527046.1:c.167C>T	XP_011525348.1:p.Ser56Leu
NM_001321281.1:c.344C>T	NP_001308210.1:p.Ser115Leu
NM_001321282.1:c.-865C>T	NP_001308211.1:n.-865C>T
NM_001321283.1:c.167C>T	NP_001308212.1:p.Ser56Leu
NM_001321285.1:c.-161C>T	NP_001308214.1:n.-161C>T
XM_024451557.1:c.-1406C>T	XP_024307325.1:n.-1406C>T
NM_017636.4:c.689C>T MANE Select	NP_060106.2:p.Ser230Leu
NM_001195227.2:c.689C>T	NP_001182156.1:p.Ser230Leu
NM_001321281.2:c.344C>T	NP_001308210.1:p.Ser115Leu
NM_001321282.2:c.-865C>T	NP_001308211.1:n.-865C>T
NM_001321283.2:c.167C>T	NP_001308212.1:p.Ser56Leu
NM_001321285.2:c.-161C>T	NP_001308214.1:n.-161C>T