Canonical Allele Identifier: CA9569550

Gene: TRPM4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49196675C>T , CM000681.2:g.49196675C>T	GRCh38
NC_000019.9:g.49699932C>T , CM000681.1:g.49699932C>T	GRCh37
NC_000019.8:g.54391744C>T	NCBI36
NG_027551.1:g.43917C>T
NG_027551.2:g.43917C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252826.10:c.2446C>T MANE Select	ENSP00000252826.4:p.Leu816=
ENST00000252826.9:c.2446C>T	ENSP00000252826.4:p.Leu816=
ENST00000427978.6:c.2211-3625C>T	ENSP00000407492.1:n.2211-3625C>T
ENST00000595071.5:n.1410C>T
ENST00000595519.5:c.*1856C>T	ENSP00000469893.1:n.*1856C>T
ENST00000595882.1:n.538C>T
ENST00000596338.5:n.2543C>T
ENST00000598502.5:c.*1559C>T	ENSP00000470229.1:n.*1559C>T
ENST00000598697.5:c.*1401C>T	ENSP00000468989.1:n.*1401C>T
NM_001195227.1:c.2211-3625C>T	NP_001182156.1:n.2211-3625C>T
NM_017636.3:c.2446C>T	NP_060106.2:p.Leu816=
XM_005259017.1:c.1159C>T	XP_005259074.1:p.Leu387=
XM_005259018.2:c.838C>T	XP_005259075.1:p.Leu280=
XM_011527046.1:c.1924C>T	XP_011525348.1:p.Leu642=
NM_001321281.1:c.2101C>T	NP_001308210.1:p.Leu701=
NM_001321282.1:c.838C>T	NP_001308211.1:p.Leu280=
NM_001321283.1:c.1924C>T	NP_001308212.1:p.Leu642=
NM_001321285.1:c.1384C>T	NP_001308214.1:p.Leu462=
XM_024451557.1:c.472C>T	XP_024307325.1:p.Leu158=
NM_017636.4:c.2446C>T MANE Select	NP_060106.2:p.Leu816=
NM_001195227.2:c.2211-3625C>T	NP_001182156.1:n.2211-3625C>T
NM_001321281.2:c.2101C>T	NP_001308210.1:p.Leu701=
NM_001321282.2:c.838C>T	NP_001308211.1:p.Leu280=
NM_001321283.2:c.1924C>T	NP_001308212.1:p.Leu642=
NM_001321285.2:c.1384C>T	NP_001308214.1:p.Leu462=