Canonical Allele Identifier: CA346739

Gene: TRPM4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49183151A>C , CM000681.2:g.49183151A>C	GRCh38
NC_000019.9:g.49686408A>C , CM000681.1:g.49686408A>C	GRCh37
NC_000019.8:g.54378220A>C	NCBI36
NG_027551.1:g.30393A>C
NG_027551.2:g.30393A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252826.10:c.1682A>C MANE Select	ENSP00000252826.4:p.Asp561Ala
ENST00000252826.9:c.1682A>C	ENSP00000252826.4:p.Asp561Ala
ENST00000427978.6:c.1682A>C	ENSP00000407492.1:p.Asp561Ala
ENST00000595071.5:n.471A>C
ENST00000595519.5:c.*1092A>C	ENSP00000469893.1:n.*1092A>C
ENST00000596338.5:n.1604A>C
ENST00000598502.5:c.*795A>C	ENSP00000470229.1:n.*795A>C
ENST00000598697.5:c.*637A>C	ENSP00000468989.1:n.*637A>C
NM_001195227.1:c.1682A>C	NP_001182156.1:p.Asp561Ala
NM_017636.3:c.1682A>C	NP_060106.2:p.Asp561Ala
XM_005259017.1:c.395A>C	XP_005259074.1:p.Asp132Ala
XM_005259018.2:c.74A>C	XP_005259075.1:p.Asp25Ala
XM_011527046.1:c.1160A>C	XP_011525348.1:p.Asp387Ala
NM_001321281.1:c.1337A>C	NP_001308210.1:p.Asp446Ala
NM_001321282.1:c.74A>C	NP_001308211.1:p.Asp25Ala
NM_001321283.1:c.1160A>C	NP_001308212.1:p.Asp387Ala
NM_001321285.1:c.620A>C	NP_001308214.1:p.Asp207Ala
XM_024451557.1:c.-468A>C	XP_024307325.1:n.-468A>C
NM_017636.4:c.1682A>C MANE Select	NP_060106.2:p.Asp561Ala
NM_001195227.2:c.1682A>C	NP_001182156.1:p.Asp561Ala
NM_001321281.2:c.1337A>C	NP_001308210.1:p.Asp446Ala
NM_001321282.2:c.74A>C	NP_001308211.1:p.Asp25Ala
NM_001321283.2:c.1160A>C	NP_001308212.1:p.Asp387Ala
NM_001321285.2:c.620A>C	NP_001308214.1:p.Asp207Ala