Canonical Allele Identifier: CA9569683

Gene: TRPM4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49200643C>T , CM000681.2:g.49200643C>T	GRCh38
NC_000019.9:g.49703900C>T , CM000681.1:g.49703900C>T	GRCh37
NC_000019.8:g.54395712C>T	NCBI36
NG_027551.1:g.47885C>T
NG_027551.2:g.47885C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017636.4:c.2811C>T MANE Select	NP_060106.2:p.Leu937=
ENST00000252826.10:c.2811C>T MANE Select	ENSP00000252826.4:p.Leu937=
NM_001195227.1:c.2376C>T	NP_001182156.1:p.Leu792=
NM_001195227.2:c.2376C>T	NP_001182156.1:p.Leu792=
NM_001321281.1:c.2466C>T	NP_001308210.1:p.Leu822=
NM_001321281.2:c.2466C>T	NP_001308210.1:p.Leu822=
NM_001321282.1:c.1203C>T	NP_001308211.1:p.Leu401=
NM_001321282.2:c.1203C>T	NP_001308211.1:p.Leu401=
NM_001321283.1:c.2289C>T	NP_001308212.1:p.Leu763=
NM_001321283.2:c.2289C>T	NP_001308212.1:p.Leu763=
NM_001321285.1:c.1749C>T	NP_001308214.1:p.Leu583=
NM_001321285.2:c.1749C>T	NP_001308214.1:p.Leu583=
NM_017636.3:c.2811C>T	NP_060106.2:p.Leu937=
ENST00000252826.9:c.2811C>T	ENSP00000252826.4:p.Leu937=
ENST00000427978.6:c.2376C>T	ENSP00000407492.1:p.Leu792=
ENST00000595071.5:n.1775C>T
ENST00000595519.5:c.*2221C>T	ENSP00000469893.1:n.*2221C>T
ENST00000596338.5:n.2908C>T
ENST00000598502.5:c.*1924C>T	ENSP00000470229.1:n.*1924C>T
ENST00000598697.5:c.*1766C>T	ENSP00000468989.1:n.*1766C>T
XM_005259017.1:c.1524C>T	XP_005259074.1:p.Leu508=
XM_005259018.2:c.1203C>T	XP_005259075.1:p.Leu401=
XM_011527046.1:c.2289C>T	XP_011525348.1:p.Leu763=
XM_024451557.1:c.837C>T	XP_024307325.1:p.Leu279=