Canonical Allele Identifier: CA508282853

Gene: TRPM4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49189016C>G , CM000681.2:g.49189016C>G	GRCh38
NC_000019.9:g.49692273C>G , CM000681.1:g.49692273C>G	GRCh37
NC_000019.8:g.54384085C>G	NCBI36
NG_027551.1:g.36258C>G
NG_027551.2:g.36258C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252826.10:c.1944C>G MANE Select	ENSP00000252826.4:p.Leu648=
ENST00000252826.9:c.1944C>G	ENSP00000252826.4:p.Leu648=
ENST00000427978.6:c.1944C>G	ENSP00000407492.1:p.Leu648=
ENST00000595071.5:n.908C>G
ENST00000595519.5:c.*1354C>G	ENSP00000469893.1:n.*1354C>G
ENST00000595882.1:n.149C>G
ENST00000596338.5:n.2041C>G
ENST00000598502.5:c.*1057C>G	ENSP00000470229.1:n.*1057C>G
ENST00000598697.5:c.*899C>G	ENSP00000468989.1:n.*899C>G
NM_001195227.1:c.1944C>G	NP_001182156.1:p.Leu648=
NM_017636.3:c.1944C>G	NP_060106.2:p.Leu648=
XM_005259017.1:c.657C>G	XP_005259074.1:p.Leu219=
XM_005259018.2:c.336C>G	XP_005259075.1:p.Leu112=
XM_011527046.1:c.1422C>G	XP_011525348.1:p.Leu474=
NM_001321281.1:c.1599C>G	NP_001308210.1:p.Leu533=
NM_001321282.1:c.336C>G	NP_001308211.1:p.Leu112=
NM_001321283.1:c.1422C>G	NP_001308212.1:p.Leu474=
NM_001321285.1:c.882C>G	NP_001308214.1:p.Leu294=
XM_024451557.1:c.-31C>G	XP_024307325.1:n.-31C>G
NM_017636.4:c.1944C>G MANE Select	NP_060106.2:p.Leu648=
NM_001195227.2:c.1944C>G	NP_001182156.1:p.Leu648=
NM_001321281.2:c.1599C>G	NP_001308210.1:p.Leu533=
NM_001321282.2:c.336C>G	NP_001308211.1:p.Leu112=
NM_001321283.2:c.1422C>G	NP_001308212.1:p.Leu474=
NM_001321285.2:c.882C>G	NP_001308214.1:p.Leu294=