Canonical Allele Identifier: CA5084148

Gene: TRPM6

Linked Data - Expert Curation

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.74762494C>T , CM000671.2:g.74762494C>T	GRCh38
NC_000009.11:g.77377410C>T , CM000671.1:g.77377410C>T	GRCh37
NC_000009.10:g.76567230C>T	NCBI36
NG_017036.1:g.130601G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360774.6:c.4177G>A MANE Select	ENSP00000354006.1:p.Val1393Ile
ENST00000360774.5:c.4177G>A	ENSP00000354006.1:p.Val1393Ile
ENST00000361255.7:c.4162G>A	ENSP00000354962.3:p.Val1388Ile
ENST00000449912.6:c.4162G>A	ENSP00000396672.2:p.Val1388Ile
NM_001177310.1:c.4162G>A	NP_001170781.1:p.Val1388Ile
NM_001177311.1:c.4162G>A	NP_001170782.1:p.Val1388Ile
NM_017662.4:c.4177G>A	NP_060132.3:p.Val1393Ile
XM_011518244.1:c.4177G>A	XP_011516546.1:p.Val1393Ile
XM_011518245.1:c.4084G>A	XP_011516547.1:p.Val1362Ile
XM_011518246.1:c.4177G>A	XP_011516548.1:p.Val1393Ile
XM_011518247.1:c.4048G>A	XP_011516549.1:p.Val1350Ile
XM_011518248.1:c.4036G>A	XP_011516550.1:p.Val1346Ile
XM_011518249.1:c.3943G>A	XP_011516551.1:p.Val1315Ile
XM_011518250.1:c.3901G>A	XP_011516552.1:p.Val1301Ile
XM_011518251.1:c.3448G>A	XP_011516553.1:p.Val1150Ile
XM_011518252.1:c.4177G>A	XP_011516554.1:p.Val1393Ile
XM_011518253.1:c.2110G>A	XP_011516555.1:p.Val704Ile
XR_929716.1:n.4415G>A
XR_929717.1:n.4415G>A
XM_011518251.2:c.3448G>A	XP_011516553.1:p.Val1150Ile
XM_011518252.2:c.4177G>A	XP_011516554.1:p.Val1393Ile
XM_017014287.1:c.3814G>A	XP_016869776.1:p.Val1272Ile
XM_017014288.1:c.3667G>A	XP_016869777.1:p.Val1223Ile
XM_017014289.1:c.4177G>A	XP_016869778.1:p.Val1393Ile
XR_001746185.1:n.4415G>A
XR_929717.2:n.4415G>A
NM_017662.5:c.4177G>A MANE Select	NP_060132.3:p.Val1393Ile
NM_001177310.2:c.4162G>A	NP_001170781.1:p.Val1388Ile
NM_001177311.2:c.4162G>A	NP_001170782.1:p.Val1388Ile