Canonical Allele Identifier: CA373676470
Community Standard Title: NM_017662.5(TRPM6):c.5314C>T (p.Arg1772Ter)
Gene: TRPM6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.74739896G>A , CM000671.2:g.74739896G>A GRCh38
NC_000009.11:g.77354812G>A , CM000671.1:g.77354812G>A GRCh37
NC_000009.10:g.76544632G>A NCBI36
NG_017036.1:g.153199C>T

Transcript Alleles

HGVS Amino-acid Change
NM_017662.5:c.5314C>T MANE Select NP_060132.3:p.Arg1772Ter
ENST00000360774.6:c.5314C>T MANE Select ENSP00000354006.1:p.Arg1772Ter
NM_001177310.1:c.5299C>T NP_001170781.1:p.Arg1767Ter
NM_001177310.2:c.5299C>T NP_001170781.1:p.Arg1767Ter
NM_001177311.1:c.5299C>T NP_001170782.1:p.Arg1767Ter
NM_001177311.2:c.5299C>T NP_001170782.1:p.Arg1767Ter
NM_017662.4:c.5314C>T NP_060132.3:p.Arg1772Ter
ENST00000360774.5:c.5314C>T ENSP00000354006.1:p.Arg1772Ter
ENST00000361255.7:c.5299C>T ENSP00000354962.3:p.Arg1767Ter
ENST00000449912.6:c.5299C>T ENSP00000396672.2:p.Arg1767Ter
XM_011518244.1:c.5311C>T XP_011516546.1:p.Arg1771Ter
XM_011518245.1:c.5221C>T XP_011516547.1:p.Arg1741Ter
XM_011518246.1:c.5304+10C>T XP_011516548.1:n.5304+10C>T
XM_011518247.1:c.5185C>T XP_011516549.1:p.Arg1729Ter
XM_011518248.1:c.5173C>T XP_011516550.1:p.Arg1725Ter
XM_011518249.1:c.5080C>T XP_011516551.1:p.Arg1694Ter
XM_011518250.1:c.5038C>T XP_011516552.1:p.Arg1680Ter
XM_011518251.1:c.4585C>T XP_011516553.1:p.Arg1529Ter
XM_011518251.2:c.4585C>T XP_011516553.1:p.Arg1529Ter
XM_011518253.1:c.3247C>T XP_011516555.1:p.Arg1083Ter
XM_017014287.1:c.4951C>T XP_016869776.1:p.Arg1651Ter
XM_017014288.1:c.4804C>T XP_016869777.1:p.Arg1602Ter
XR_001746185.1:n.5552C>T
XR_929716.1:n.5552C>T