Canonical Allele Identifier: CA373686202
Community Standard Title: NM_017662.5(TRPM6):c.4057C>T (p.Arg1353Ter)
Gene: TRPM6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.74762614G>A , CM000671.2:g.74762614G>A GRCh38
NC_000009.11:g.77377530G>A , CM000671.1:g.77377530G>A GRCh37
NC_000009.10:g.76567350G>A NCBI36
NG_017036.1:g.130481C>T

Transcript Alleles

HGVS Amino-acid Change
NM_017662.5:c.4057C>T MANE Select NP_060132.3:p.Arg1353Ter
ENST00000360774.6:c.4057C>T MANE Select ENSP00000354006.1:p.Arg1353Ter
NM_001177310.1:c.4042C>T NP_001170781.1:p.Arg1348Ter
NM_001177310.2:c.4042C>T NP_001170781.1:p.Arg1348Ter
NM_001177311.1:c.4042C>T NP_001170782.1:p.Arg1348Ter
NM_001177311.2:c.4042C>T NP_001170782.1:p.Arg1348Ter
NM_017662.4:c.4057C>T NP_060132.3:p.Arg1353Ter
ENST00000360774.5:c.4057C>T ENSP00000354006.1:p.Arg1353Ter
ENST00000361255.7:c.4042C>T ENSP00000354962.3:p.Arg1348Ter
ENST00000449912.6:c.4042C>T ENSP00000396672.2:p.Arg1348Ter
XM_011518244.1:c.4057C>T XP_011516546.1:p.Arg1353Ter
XM_011518245.1:c.3964C>T XP_011516547.1:p.Arg1322Ter
XM_011518246.1:c.4057C>T XP_011516548.1:p.Arg1353Ter
XM_011518247.1:c.3928C>T XP_011516549.1:p.Arg1310Ter
XM_011518248.1:c.3916C>T XP_011516550.1:p.Arg1306Ter
XM_011518249.1:c.3823C>T XP_011516551.1:p.Arg1275Ter
XM_011518250.1:c.3781C>T XP_011516552.1:p.Arg1261Ter
XM_011518251.1:c.3328C>T XP_011516553.1:p.Arg1110Ter
XM_011518251.2:c.3328C>T XP_011516553.1:p.Arg1110Ter
XM_011518252.1:c.4057C>T XP_011516554.1:p.Arg1353Ter
XM_011518252.2:c.4057C>T XP_011516554.1:p.Arg1353Ter
XM_011518253.1:c.1990C>T XP_011516555.1:p.Arg664Ter
XM_017014287.1:c.3694C>T XP_016869776.1:p.Arg1232Ter
XM_017014288.1:c.3547C>T XP_016869777.1:p.Arg1183Ter
XM_017014289.1:c.4057C>T XP_016869778.1:p.Arg1353Ter
XR_001746185.1:n.4295C>T
XR_929716.1:n.4295C>T
XR_929717.1:n.4295C>T
XR_929717.2:n.4295C>T