Canonical Allele Identifier: CA465505273
Gene: TRPM6 HGNC NCBI

Linked Data

dbSNP Id: rs1427089010
gnomAD v2: 9-77397319-C-T
gnomAD v3: 9-74782403-C-T
gnomAD v4: 9-74782403-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.74782403C>T , CM000671.2:g.74782403C>T GRCh38
NC_000009.11:g.77397319C>T , CM000671.1:g.77397319C>T GRCh37
NC_000009.10:g.76587139C>T NCBI36
NG_017036.1:g.110692G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360774.6:c.3168G>A MANE Select ENSP00000354006.1:p.Val1056=
ENST00000360774.5:c.3168G>A ENSP00000354006.1:p.Val1056=
ENST00000361255.7:c.3153G>A ENSP00000354962.3:p.Val1051=
ENST00000449912.6:c.3153G>A ENSP00000396672.2:p.Val1051=
NM_001177310.1:c.3153G>A NP_001170781.1:p.Val1051=
NM_001177311.1:c.3153G>A NP_001170782.1:p.Val1051=
NM_017662.4:c.3168G>A NP_060132.3:p.Val1056=
XM_011518244.1:c.3168G>A XP_011516546.1:p.Val1056=
XM_011518245.1:c.3075G>A XP_011516547.1:p.Val1025=
XM_011518246.1:c.3168G>A XP_011516548.1:p.Val1056=
XM_011518247.1:c.3039G>A XP_011516549.1:p.Val1013=
XM_011518248.1:c.3027G>A XP_011516550.1:p.Val1009=
XM_011518249.1:c.2934G>A XP_011516551.1:p.Val978=
XM_011518250.1:c.2892G>A XP_011516552.1:p.Val964=
XM_011518251.1:c.2439G>A XP_011516553.1:p.Val813=
XM_011518252.1:c.3168G>A XP_011516554.1:p.Val1056=
XM_011518253.1:c.1101G>A XP_011516555.1:p.Val367=
XM_011518254.1:c.3168G>A XP_011516556.1:p.Val1056=
XM_011518255.1:c.3168G>A XP_011516557.1:p.Val1056=
XR_929716.1:n.3406G>A
XR_929717.1:n.3406G>A
XR_929718.1:n.3332+276G>A
XM_011518251.2:c.2439G>A XP_011516553.1:p.Val813=
XM_011518252.2:c.3168G>A XP_011516554.1:p.Val1056=
XM_011518255.2:c.3168G>A XP_011516557.1:p.Val1056=
XM_017014287.1:c.2805G>A XP_016869776.1:p.Val935=
XM_017014288.1:c.2658G>A XP_016869777.1:p.Val886=
XM_017014289.1:c.3168G>A XP_016869778.1:p.Val1056=
XR_001746185.1:n.3406G>A
XR_929717.2:n.3406G>A
NM_017662.5:c.3168G>A MANE Select NP_060132.3:p.Val1056=
NM_001177310.2:c.3153G>A NP_001170781.1:p.Val1051=
NM_001177311.2:c.3153G>A NP_001170782.1:p.Val1051=