Canonical Allele Identifier: CA5083618
Community Standard Title: NM_017662.5(TRPM6):c.6032C>T (p.Thr2011Met)
Gene: TRPM6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.74724650G>A , CM000671.2:g.74724650G>A GRCh38
NC_000009.11:g.77339566G>A , CM000671.1:g.77339566G>A GRCh37
NC_000009.10:g.76529386G>A NCBI36
NG_017036.1:g.168445C>T

Transcript Alleles

HGVS Amino-acid Change
NM_017662.5:c.6032C>T MANE Select NP_060132.3:p.Thr2011Met
ENST00000360774.6:c.6032C>T MANE Select ENSP00000354006.1:p.Thr2011Met
NM_001177310.1:c.6017C>T NP_001170781.1:p.Thr2006Met
NM_001177310.2:c.6017C>T NP_001170781.1:p.Thr2006Met
NM_001177311.1:c.6017C>T NP_001170782.1:p.Thr2006Met
NM_001177311.2:c.6017C>T NP_001170782.1:p.Thr2006Met
NM_017662.4:c.6032C>T NP_060132.3:p.Thr2011Met
ENST00000360774.5:c.6032C>T ENSP00000354006.1:p.Thr2011Met
ENST00000361255.7:c.6017C>T ENSP00000354962.3:p.Thr2006Met
ENST00000449912.6:c.6017C>T ENSP00000396672.2:p.Thr2006Met
XM_011518244.1:c.6029C>T XP_011516546.1:p.Thr2010Met
XM_011518245.1:c.5939C>T XP_011516547.1:p.Thr1980Met
XM_011518246.1:c.5909C>T XP_011516548.1:p.Thr1970Met
XM_011518247.1:c.5903C>T XP_011516549.1:p.Thr1968Met
XM_011518248.1:c.5891C>T XP_011516550.1:p.Thr1964Met
XM_011518249.1:c.5798C>T XP_011516551.1:p.Thr1933Met
XM_011518250.1:c.5756C>T XP_011516552.1:p.Thr1919Met
XM_011518251.1:c.5303C>T XP_011516553.1:p.Thr1768Met
XM_011518251.2:c.5303C>T XP_011516553.1:p.Thr1768Met
XM_011518253.1:c.3965C>T XP_011516555.1:p.Thr1322Met
XM_017014287.1:c.5669C>T XP_016869776.1:p.Thr1890Met
XM_017014288.1:c.5522C>T XP_016869777.1:p.Thr1841Met
XR_001746185.1:n.6366C>T