Canonical Allele Identifier: CA5085047
Community Standard Title: NM_017662.5(TRPM6):c.821C>T (p.Ser274Phe)
Gene: TRPM6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.74827798G>A , CM000671.2:g.74827798G>A GRCh38
NC_000009.11:g.77442714G>A , CM000671.1:g.77442714G>A GRCh37
NC_000009.10:g.76632534G>A NCBI36
NG_017036.1:g.65297C>T

Transcript Alleles

HGVS Amino-acid Change
NM_017662.5:c.821C>T MANE Select NP_060132.3:p.Ser274Phe
ENST00000360774.6:c.821C>T MANE Select ENSP00000354006.1:p.Ser274Phe
NM_001177310.1:c.806C>T NP_001170781.1:p.Ser269Phe
NM_001177310.2:c.806C>T NP_001170781.1:p.Ser269Phe
NM_001177311.1:c.806C>T NP_001170782.1:p.Ser269Phe
NM_001177311.2:c.806C>T NP_001170782.1:p.Ser269Phe
NM_017662.4:c.821C>T NP_060132.3:p.Ser274Phe
ENST00000359047.2:c.821C>T ENSP00000351942.2:p.Ser274Phe
ENST00000360774.5:c.821C>T ENSP00000354006.1:p.Ser274Phe
ENST00000361255.7:c.806C>T ENSP00000354962.3:p.Ser269Phe
ENST00000449912.6:c.806C>T ENSP00000396672.2:p.Ser269Phe
ENST00000483186.1:n.212C>T
XM_011518244.1:c.821C>T XP_011516546.1:p.Ser274Phe
XM_011518245.1:c.821C>T XP_011516547.1:p.Ser274Phe
XM_011518246.1:c.821C>T XP_011516548.1:p.Ser274Phe
XM_011518247.1:c.821C>T XP_011516549.1:p.Ser274Phe
XM_011518248.1:c.821C>T XP_011516550.1:p.Ser274Phe
XM_011518249.1:c.821C>T XP_011516551.1:p.Ser274Phe
XM_011518250.1:c.821C>T XP_011516552.1:p.Ser274Phe
XM_011518251.1:c.92C>T XP_011516553.1:p.Ser31Phe
XM_011518251.2:c.92C>T XP_011516553.1:p.Ser31Phe
XM_011518252.1:c.821C>T XP_011516554.1:p.Ser274Phe
XM_011518252.2:c.821C>T XP_011516554.1:p.Ser274Phe
XM_011518254.1:c.821C>T XP_011516556.1:p.Ser274Phe
XM_011518255.1:c.821C>T XP_011516557.1:p.Ser274Phe
XM_011518255.2:c.821C>T XP_011516557.1:p.Ser274Phe
XM_017014287.1:c.821C>T XP_016869776.1:p.Ser274Phe
XM_017014288.1:c.821C>T XP_016869777.1:p.Ser274Phe
XM_017014289.1:c.821C>T XP_016869778.1:p.Ser274Phe
XR_001746185.1:n.1059C>T
XR_929716.1:n.1059C>T
XR_929717.1:n.1059C>T
XR_929717.2:n.1059C>T
XR_929718.1:n.1059C>T