Canonical Allele Identifier: CA465613989
Community Standard Title: NM_017662.5(TRPM6):c.5223C>T (p.Tyr1741=)
Gene: TRPM6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.74739987G>A , CM000671.2:g.74739987G>A GRCh38
NC_000009.11:g.77354903G>A , CM000671.1:g.77354903G>A GRCh37
NC_000009.10:g.76544723G>A NCBI36
NG_017036.1:g.153108C>T

Transcript Alleles

HGVS Amino-acid Change
NM_017662.5:c.5223C>T MANE Select NP_060132.3:p.Tyr1741=
ENST00000360774.6:c.5223C>T MANE Select ENSP00000354006.1:p.Tyr1741=
NM_001177310.1:c.5208C>T NP_001170781.1:p.Tyr1736=
NM_001177310.2:c.5208C>T NP_001170781.1:p.Tyr1736=
NM_001177311.1:c.5208C>T NP_001170782.1:p.Tyr1736=
NM_001177311.2:c.5208C>T NP_001170782.1:p.Tyr1736=
NM_017662.4:c.5223C>T NP_060132.3:p.Tyr1741=
ENST00000360774.5:c.5223C>T ENSP00000354006.1:p.Tyr1741=
ENST00000361255.7:c.5208C>T ENSP00000354962.3:p.Tyr1736=
ENST00000449912.6:c.5208C>T ENSP00000396672.2:p.Tyr1736=
XM_011518244.1:c.5220C>T XP_011516546.1:p.Tyr1740=
XM_011518245.1:c.5130C>T XP_011516547.1:p.Tyr1710=
XM_011518246.1:c.5223C>T XP_011516548.1:p.Tyr1741=
XM_011518247.1:c.5094C>T XP_011516549.1:p.Tyr1698=
XM_011518248.1:c.5082C>T XP_011516550.1:p.Tyr1694=
XM_011518249.1:c.4989C>T XP_011516551.1:p.Tyr1663=
XM_011518250.1:c.4947C>T XP_011516552.1:p.Tyr1649=
XM_011518251.1:c.4494C>T XP_011516553.1:p.Tyr1498=
XM_011518251.2:c.4494C>T XP_011516553.1:p.Tyr1498=
XM_011518253.1:c.3156C>T XP_011516555.1:p.Tyr1052=
XM_017014287.1:c.4860C>T XP_016869776.1:p.Tyr1620=
XM_017014288.1:c.4713C>T XP_016869777.1:p.Tyr1571=
XR_001746185.1:n.5461C>T
XR_929716.1:n.5461C>T